The Autosomal Me – The Holy Grail – Identifying Native Genealogy Lines

holy grail

Sangreal – the Holy Grail.  We are finally here, Part 9 and the final article in our series.  The entire purpose of The Autosomal Me series has been to use our DNA and the clues it holds to identify minority admixture, in this case, Native American, and by identifying those Native segments, and building chromosomal clusters, to identify the family lines that contributed that Native admixture.  Articles 1-8 in the series set the stage, explained the process and walked us through the preparatory steps.  In this last article, we apply all of the ingredients, fasten the lid, shake and see what we come up with.  Let’s take a minute and look at the steps that got us to this point.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.

Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.

Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.

In Part 5, “The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools,” we looked at 5 different third party tools and what they can tell us about our minority admixture that is not reported by the major testing companies because the segments are too small and fragmented.

In Part 6, “The Autosomal Me – DNA Analysis – Splitting Up” we began the analysis part of the data we’ve been gathering.   We looked at how to determine whether minority admixture on specific chromosomes came from which parent.

Part 7, “The Autosomal Me – Start, Stop, Go – Identifying Native Chromosomal Segments” took a deeper dive and focused on the two chromosomes with proven Native heritage and began by comparing those chromosome segments using the 4 GedMatch admixture tools.

Part 8, “The Autosomal Me – Extracting Data Segments and Clustering,” we  extract all of the Native and Blended Asian segments in all 22 chromosomes, but only used chromosomes 1 and 2 for illustration purposes.  We then clustered the resulting data to look for trends, grouping clusters by either the Strong Native criteria or the Blended Asian criteria.

In this final segment, Part 9, we will be applying the chromosomal information we’ve gathered to our matches and determine which of our lines are the most likely to have Native Ancestry.  This, of course, has been the goal all along.  So, drum roll…..here we go.

In Part 8, we ended by entering the start and stop locations of both Strong Native and Blended Asian clusters into a table to facilitate easy data entry into the chromosome match spreadsheet downloaded from either 23andMe or Family Tree DNA.  If you downloaded it previously, you might want to download it again if you haven’t modified it, or download new matches since you last downloaded the spreadsheet and add them to the master copy.

My goal is to determine which matches and clusters indicate Native ancestry, and how to correlate those matches to lineage.  In other words, which family lines in my family were Native or carry Native heritage someplace.

The good news is that my mother’s line has proven Native heritage, so we can use her line as proof of concept.  My father’s family has so many unidentified wives, marginalized families and family secrets that the Native line could be almost any of them, or all of them!  Let’s see how that tree shakes out.

Finding Matches

So let’s look at a quick example of how this would work.  Let’s say I have a match, John, on chromosome 4 in an area where my mother has no Native admixture, but I do.  Therefore, since John does not match my mother, then the match came from my father and if we can identify other people who also match both John and I in that same region on that chromosome, they too have Native ancestry.  Let’s say that we all also share a common ancestor.  It stands to reason at that point, that the common ancestor between us indicates the Native line, because we all match on the Native segment and have the same ancestor.  Obviously, this would help immensely in identifying Native families and at least giving pointers in which direction to look.  This is a “best case’ example.  Some situations, especially where both parents contribute Native heritage to the same chromosome, won’t be this straightforward.

Based on our findings, the maximum range and minimum (least common denominator or “In Common” range is as follows for the strongest Native segments on chromosomes 1 and 2.

  Chromosome 1 Chromosome 2
Largest   Range 162,500,000   – 180,000,000 79,000,000   – 105,000,000
Smallest   Range 165,658,091   – 171,000,000 90,000,000   – 103,145,425

At GedMatch

At GedMatch, I used a comparison tool to see who matched me on chromosome 1.  Only 2 people outside of immediate family members matched, and both from Family Tree DNA.  Both matched me on the critical Native segments between about 165-180mg.  I was excited.  I went to Family Tree DNA and checked to see if these two people also matched my mother, which would confirm the Native connection, but neither did, indicating of course that these two people matched me on my father’s side.  That too is valuable information, but it didn’t help identify any common Native heritage with my mother on chromosome 1.  It did, however, eliminate them as possibilities which is valuable information as well.

DNAGedcom

I used a new tool, DNAGedcom, compliments of Rob Warthen who has created a website, DNA Tools, at www.dnagedcom.com.  This wonderful tool allows you to download all of your autosomal matches at Family Tree DNA and 23andMe along with their chromosomal segment matches.  Since my mother’s DNA has only been tested at Family Tree DNA, I’m limiting the download to those results for now, because what I need is to find the people who match both she and I on the critical segments of chromosome 1 or 2.

Working with the Download Spreadsheet

It was disappointing to discover that my mother and I had no common matches that fell into this range on chromosome 1, but chromosome 2 was another matter.  Please note that I have redacted match surnames for privacy.

step 9 table 1

The spreadsheet above shows the comparison of my matches (pink) and Mother’s (white).  The Native segment of chromosome 2 where I match Mother is shaded mustard.  I shaded the chromosome segments that fell into the “common match” range in green.  Of those matches, there is only one person who matches both Mother and I, Emma.  The next step, of course, is to contact Emma and see if we can discover our common ancestor, because whoever it is, that is the Native line.  As you might imagine, I am chomping at the bit.

There are no segments of chromosome 2 that are unquestionably isolated to my father’s line.

Kicking it up a Notch

Are you wondering about now how something that started out looking so simple got so complex?  Well, I am too, you’re not alone.  But we’ve come this far, so let’s go that final leg in this journey.  My mom always used to say there was no point in doing something at all if you weren’t going to do it right.  Sigh….OK Mom.

The easiest way to facilitate a chromosome by chromosome comparison with all of your matches and your Strong Native and Blended Asian segments is to enter all of these segment groups into the match spreadsheet.  If you’re groaning and your eyes glaze over right after you do one big ole eye roll, I understand.

But let’s take a look at how this helps us.

On the excerpt from my spreadsheet below, for a segment of chromosome 5, I have labeled the people and how they match to me.  The ones labeled “Mom” in the last column are labeled that way because these people match both Mom and I.  The ones labeled “Dad” are labeled that way because I know that person is related on my father’s side.

Using the information from the tables created in Step 8, I entered the beginning and end of all matching segment clusters into my spreadsheet.  You can see these entries on lines 7, 8, 22, 23 and 24.  You then proceed to colorize your matches based on the entry for either Mom or Dad – in other words the blue row or the purple row, line 7, 22 or 24.  In this example, actually, line 5 Rex, based on the coloration, should have been half blue and half purple, but we’ll discuss his case in a minute.

The you can then sort either by match name or by chromosome to view data in both ways.  Let’s look at an example of how this works.

Legend:

  • White Rows:  Mother’s matches.  When Mother and I both match an individual, you’ll see the same matches for me in pink.  This double match indicates that the match is to Mother’s side and not Father’s side.
  • Pink Rows:  My matches.
  • Purple “Mom” labels in last column:  The individual matches both me and Mom.  This is a genetic match.
  • Teal “Dad” labels in last column: Genealogically proven to be from my father’s side.  This is a genealogical, not a genetic label, since I don’t have Dad’s DNA and can only infer these genetically when they don’t also match Mother.
  • Dark Pink Rows labeled “Me Amerind Only” are Strong Native or Blended Asian segments from Chromosome Table that I have entered.  My segments must come from one of my parents, so I’ve either colored them purple, if the match is someone who matches Mother and I both, or teal, if they don’t match both Mom and I, so by inference they come from my father’s line.
  • Dark Purple Rows labeled “Mom Amerind Only” are Mom’s segments from the Chromosome Table.
  • Dark Teal Rows labeled “Dad Amerind Only” are inferred segments belonging to my father based on the fact that Mother and I don’t share them.

Inferred Relationships

This is a good place to talk for just a minute about inferred relationships in this context.  Inference gets somewhat tenuous or weak.  The inferred matches on my father’s side began with the Native segments in the admix tools.  Some inferences are very strong, where Mother has no Native at all in that region.  For example, Mom has European and I have Native American.  No question, this had to come from my father.  But other cases are much less straightforward.

In many cases, categorization may be the issue.  Mom has West Asian for example and I have Siberian or Beringian.  Is this a categorization issue or is this a real genetic difference, meaning that my Siberian/Beringian is actually Native and came from my father’s side?

Other cases of confusion arise from segment misreads, etc.  I’ve actually intentionally included a situation like this below, so we can discuss it.  Like all things, some amount of common sense has to enter the picture, and known relationships will also weigh heavily in the equation.  How known family members match on other chromosome segments is important too.  Do you see a pattern or is this match a one-time occurrence?  Patterns are important.

Keep in mind that these entries only reflect STRONG Asian or Native signals, not all signals.  So even if Mother doesn’t have a strong signal, it doesn’t mean that she doesn’t have ANY signal in that region.  In some cases, start and stop segments for Mom and Dad overlapped due to very long segments on some matches.  In this case, we have to rely on the fact that we do have Mother’s actual DNA and assume that if they aren’t also a match to Mother, that what we are seeing is actually Dad’s lines, although this may not in actuality always be true.  Why?  Because we are dealing with segments below the matching threshold limit at both Family Tree DNA and 23andMe, and both of my parents carry Native heritage.  We can also have crossed a transitional boundary where the DNA that is being matched switches from Mom’s side to Dad’s side.

Ugh, you say, now that’s getting messy.  Yes, it is, and it has complicated this process immensely.

The Nitty-Gritty Data Itself

step 9 table 2

Taking a look at this portion of chromosome 5, we have lots going on in this cluster.  Most segments will just be boring pink and white (meaning no Native), but this segment is very busy.  Mom and I match on a small segment from 52,000,000 to 53,000,000.  Indeed, this is a very short segment when compared to the entire chromosome, but it is strongly Native.  We both also match Rex, our known cousin.  I’ve noted him with yellow in the table. Please note that Mom’s white matches are never shaded.  I am focused on determining where my own segments originate, so coloring Mother’s too was only confusing.  Yes, I did try it.

You can see that Mother actually shares all or any part of her segment with only me and Rex.  This simplifies matters, actually.  However, also note that I carry a larger segment in this region than does Mother, so either we have a categorization issue, a misread, or my father also contributed.  So, a conundrum.  This very probably implies that my father also carried Native DNA in this region.

Let’s see what Rex’s DNA looks like on this same segment of chromosome 5, from 52-53 using Eurogenes.  In the graph below, my chromosome is the top bar, Rex’s the middle and the bottom bar shows common DNA with the black nonmatching.  Yellow is Native American, red is South Asian, putty is Siberian, lime green is Mediterranean, teal is North Europe, orange is Caucus.

Step 9 item 3

This same comparison is shown to Mother’s DNA (top row) below.

step 9 item 4

It’s interesting that while Mother doesn’t have a lot of yellow (Native), she does have it throughout the same segment where Rex’s occurs, from about 52 through 53.5.

Does this actually point to a Native ancestor in the common line between Rex, Mom and I, which is the Swiss/German Johann Michael Miller line which does include an unidentified wife stateside, or does this simply indicate a common ancient population long ago in Asia?  It’s hard to say and is deserving of more research.  I feel that it is most likely Native because of the actual yellow, Native segment. If this was an Asian/European artifact, it would be much less likely to carry the actual yellow segment.

Is Rex also genealogically related to my father?  As I’ve worked through this process with all of my chromosomes and matches, I’ve really come to question if one of my father’s dead ends is also an ancestral line of my mother’s.

The key to making sense of these results is clusters.

Clusters vs Singleton Outliers

The work we’ve already done, especially in Step 8, clusters the actual DNA matching segments.  We’ve now entered that information into the spreadsheet and colored the segments of those who match.  What’s next?

The key is to look for people with clusters.  Many matches will have one segment, of say, 10 that match, colored.  Unless this is part of a large chromosome cluster, it’s probably simply an outlier.  Part of a large chromosome cluster would be like the large Strong Native segments on chromosome 1 or 2, for example.  How do we tell if this is a valid match or just an outlier?

Sort the spreadsheet by match name.  Take a look at all of the segments.

The example we’ll use is that of my cousin, Rex.  If you recall, he matches both me and Mother, is a known first cousin twice removed to me, (genetically equal to a second cousin), and is descended from the Miller line.

In this example, I also colored Mother’s segments because I wanted to see which segments that I did not receive from her were also Native. You can see that there are many segments where we all match and several of those are Native.  These also match to other Miller descendants as well, so are strongly indicative of a Native connection someplace in our common line.

If we were only to see one Native segment, we would simply disregard this as an outlier situation.  But that’s not the case.  We see a cluster of matches on various segments, we match other cousins from the same line on these segments, and reverting back to the original comparison admixture tools verifies these matches are Native for Rex, Mom and me.

step 9 item 5

Hmmmm…..what is Dad’s blue segment color doing in there?  Remember I said that we are only dealing with strong match segments?  Well, Mom didn’t have a strong segment at that location and so we inferred that Dad did.  But we know positively that this match does come from Mother’s side.  I also mentioned that I’ve come to wonder if my Mom and Dad share a common line.  It’s the Miller line that’s in question.  One of Johann Michael Miller’s children, Lodowick, moved from Pennsylvania to Augusta County, Virginia in the 1700s and his line became Appalachian, winding up in many of the same counties as my father’s family.  I’m going to treat this as simply an anomaly for now, but it actually could be, in this case, an small indication that these lines might be related.  It also might be a weak “Mom” match, or irrelevant.  I see other “double entries” like this in other Miller cousins as well.

What is the pink row on chromosome 12?  When I grouped the Strong Native and Asian Clusters, sometimes I had a strong grouping, and Mom had some.  The way I determined Dad’s inferred share was to subtract what Mom had in those segments from mine.  In a few cases, Mom didn’t have enough segments to be considered a cluster but she had enough to prevent Dad from being considered a cluster either, so those are simply pink, me with no segment coloring for Mom or Dad.

Let’s say I carry Strong Native/Mixed Asian at the following 8 locations:

10, 12, 14, 16, 18, 20, 22, 24

This meets the criteria for 8 of 15 ethno-geographic locations (in the admix tools) within a 2.5 cM distance of each other, so this cluster would be included in the Mixed Asian for me.  It could also be a Strong Native cluster if it was found in 3 of 4 individual tools.  Regardless of how, it has been included.

Let’s now say that Mom carries Native/Mixed Asian at 10, 12 and 14, but not elsewhere in this cluster.

Mom’s 3 does not qualify her for the 8/15 and it only leaves Dad with 5 inferred segments, which disqualifies him too.  So in this case, my cluster would be listed, but not attributable directly to either parent.

What this really says is that both of my parents carry some Native/Blended Asian on this segment and we have to use other tools to extrapolate anything further.  The logic steps are the same as for Dad’s blue segment.  We’re going to treat that as an outlier.  If I really need to know, I can go back to the actual admixture tools and see whether Mom or Dad really match me strongly on which segments and how we compare to Rex as well.  In this case, it’s obvious that this is a match to my Mother’s side, so I’m leaving well enough alone.

Let’s see what the matches reveal.

Matches

Referring back to the Nitty Gritty Data spreadsheet, Mom’s match to Phyllis on row 15 confirms an Acadian line.  This is the known line of Mother’s Native ancestry.  This makes sense and they match on Native segments on several other chromosomes as well.  In fact, many of my and Mother’s matches have Acadian ancestry.

My match to row 19, Joy, is a known cousin on my father’s side with common Campbell ancestry.  This line is short however, because our common ancestor, believed to be Charles Campbell died before 1825 in Hawkins County, TN.  He was probably born before 1750, given that his sons were born about 1770 and 1772.  Joy and I descend from those 2 sons.  Charles wife and parents are unknown, as is his wife.

My match to row 20, inferred through my father’s side, is to a Sizemore, a line with genetically proven Native ancestry.  Of course, this needs more research, but it may be a large hint.  I also match with several other people who carry Sizemore ancestors.  This line appears to have originated near the NC/VA border.

I wanted to mention rows 4 and 17.  Using our rules for the spreadsheet, if I match someone and they don’t also match Mother on this segment, I have inferred them to be through my father.  These are two instances that this is probably incorrect.  I do match these people through Mother, but Mother didn’t carry a strong signal on this segment, so it automatically became inferred to Dad.  Remember, I’m only recording the Strong Native or the Blended Asian segments, not all segments.  However, I left the inferred teal so that you can see what kinds of judgment calls you’ll have to make.  This also illustrates that while Mom’s genetic matches are solid, Dad’s inferred matches are less so and sometimes require interpretation.  The proper thing to do in this instance would be to refer back to the original admixture tools themselves for clarification.

Let’s see what that shows.

step 9 item 6

Using HarrappaWorld, the most pronounced segment is at about 52.  Teal is American.  You can see that Mother has only a very small trace between 53 and 54, almost negligible.  Mother’s admixture at location 52 is two segments of purple, brown and cinnamon which translate to Southwest Asian (lt purple), Mediterranean (dk purple), Caucasian (brown) and Balock (cinnamon), from Pakistan.

Checking Dodecad shows pretty much the same thing, except Mother’s background there is South Asian, which could be the same thing as Caucus and Pakistan, just different categorizations.

In this case, it looks like the admixture is not a categorization issue, but likely did come from my father.  Each segment will really be a case by case call, with only the strongest segments across all tools being the most reliable.

It’s times like this that we have to remember that we have two halves of each chromosome and they carry vastly different information from each of our parents.  Determining which is which is not always easy.  If in doubt, disregard that segment.

Raw Numbers

So, what, really did I figure out after all of this?

First, let’s look at some numbers.

I was working with a total of 292 people who had at least one chromosomal segment that matched me with a Strong Native or Blended Asian segment.  Of those, 59 also matched Mom’s DNA.  Of those, 18 had segments that matched only Mom.  This means that some of them had segments that also matched my father.  Keep in mind, again, that we are only using “strong matches” which involves inferring Dad’s segments and that referring back to the original tools can always clarify the situation.  There seems to be some specific areas that are hotspots for Native ancestry where it appears that both of my parents passed Native ancestry to me.

Many of my and my mother’s 59 matches have Acadian ancestry which is not surprising as the Acadians intermarried heavily with the Native population as well as within their own ethnic group.

Several also have Miller Ancestry.  My Miller ancestor is Johann Michael Miller (1692-1771) who immigrated in the colonial period and settled on the Pennsylvania frontier.  His son, Philip Jacob Miller’s (1726-1799) wife was a woman named Magdalena whose last name has been rumored for years to be Rochette, but no trace of a Rochette family has ever been found in the county where they lived, region or Brethren church history…and it’s not for lack of looking.  Several matches point to Native Ancestry in this line.  This also begs the question of whether this is really Native or whether it is really the Asian heritage of the German people.  Further analysis, referring back to the admixture tools, suggests that this is actually Native. It’s also interesting that absolutely none of Mother’s other German or Dutch lines show this type of ancestry.

There is no suggestion of Native ancestry in any of her other lines.  Mother’s results are relatively clean.  Dad’s are anything but.

Dad’s Messy Matches

My father’s side of the family, however, is another story.

I have 233 matches that don’t also match my mother.  There can be some technical issues related to no-calls and such, but by and large, those would not represent many.  So we need to accept that most of my matches are from my Father’s side originating in colonial America.  This line is much “messier” than my mother’s, genealogically speaking.

Of those 233 matches, only 25 can be definitely assigned to my father.  By definitely assigned, I mean the people are my cousins or there is an absolutely solid genealogical match, not a distant match.  Why am I not counting distant matches in this total?  We all know by virtue of the AncestryDNA saga that just because we match family lines and DNA does NOT mean that the DNA match is the genealogical line we think it is.  If you would like to read all about this, please refer to the details in CeCe Moore’s blog where she discussed this phenomenon.  The relevant discussion begins just after the third photo in this article where she shows that 3 of 10 matches at Ancestry where they “identify” the common DNA ancestor are incorrect.  Of course, they never SAY that the common ancestor is the DNA match, but it’s surely inferred by the DNA match and the “leaf” connecting these 2 people to a common ancestor.  It’s only evident to someone who has tested at least one parent and is savvy enough to realize that the individual whose ancestor on Mom’s side that they have highlighted, isn’t a match to Mom too.  Oops.  Mega-oops!!!

However, because we are dealing in our project, on Dad’s side, with inferences, we’re treading on some of the same ground.  Also, because we are dealing with only “strong clustered” segments, not all Native or Asian segments and because it appears that my parents both have Native ancestry.  To make matters worse, they may both have Algonquian, Iroquoian or both.

I have also discovered during this process that several of my matches are actually related to both of my parents.  I told you this got complex.

Of the people who don’t match Mother, 32 of them have chromosomal matches only to my father, so those would be considered reliable matches, as would the closest ones of the 25 that can be identified genealogically as matching Dad.  Many of these 25 are cousins I specifically asked to test, and those people’s results have been indispensable in this process.

In fact, it’s through my close circle of cousins that we have been able to eliminate several lines as having Native ancestry, because it doesn’t’ show as strong and they don’t have it either.

Many of these lines group together when looking at a specific chromosome.  There is line after line and cousin after cousin with highlighted data.

Dad’s Native Ancestors

So what has this told me?  This information strongly suggests that the following lines on my father’s side carry Native heritage.  Note the word “carry.”  All we can say at this point is that it’s in the soup – and we can utilize current matches at our testing company and at GedMatch, genealogy research and future matches to further narrow the branches of the tree.  Many of these families are intermarried and I have tried to group them by marriage group.  Obviously, eventually, their descendants all intermarried because they are all my ancestors on my father’s side.  But multiple matches to other people who carry the Native markers but aren’t related to my other lines are what define these as lines carrying Native heritage someplace.

  • Campbell – Hawkins County, Tn around 1800, missing wife and parents, married into the Dodson family
  • Dodson – Hawkins County, Tn, Virginia – written record of Lazarus Dodson camping with the Cherokee – missing wife, married into the Campbell and Estes family
  • Claxton/Clarkson – Russell Co., Va, Claiborne and Hancock Co., Tn – In NC associated with the known Native Hatcher family.  Possibly a son-in-law.  Missing family entirely.
  • Cook – Russell Co., Va. – daughter married Claxton/Clarkson – missing wives
  • Harrold, Harrell, Herrell – Hancock Co., Tn., Wilkes Co., NC – missing wives
  • McDowell – Hancock Co. Tn, Wilkes Co., NC, Augusta Co., Va – married into the Harrell family, missing wife
  • McNeil, McNiel – Wilkes Co., NC – missing wives, married into the Vannoy family
  • Vannoy – Wilkes County – some wives unaccounted for pre-1800
  • Crumley – Greene County, Tn., Lee Co., Va. – oral history of Native wife, married into the Vannoy family
  • Brown – Greene County, Tn, Montgomery Co., Va – married into the Crumley family, missing wives

While this looks like a long list, the list of families that don’t have any Native ancestry represented is much longer and effectively serves to eliminate all of those lines.  While I don’t have “THE” answer, I certainly know where to focus my research.  Maybe there isn’t the one answer.  Maybe there are multiple answers, in multiple lines.

The Take Away

Is this complex?  Yes!  Is it a lot of work?  You bet it is!  Is everything cast in concrete?  Never!  You can see that by the differences we’ve found in data interpretation, not to mention issues like no-calls (areas that for some reason in the test don’t read) and cross overs where your inheritance switches from your mom’s side to your dad’s side.  Is there any other way to do this?  No, not if your minority admixture is down in that weedy area around 1%.

Is it worth it?  You’ll have to decide.  It guess it depends on how desperately you want to know.

Part of the reason this is difficult is because we are missing tools in critical locations.  It’s an intensively laborious manual process.  In essence, using various tools, one has to figure out the locations of the Native and Asian chromosome segments and then use that information to infer Native matches by a double match (genetic match at DNA company plus match with Strong Native/Blended Asian segment) with the right parent.  It becomes even more complex if neither parent is available for testing, but it is doable although I would think the reliability could drop dramatically.

Tidbits and Trivia

I’ve picked up a number of little interesting tidbits during this process.  These may or may not be helpful to you.  Just kind of file them away until needed:)

  • Matches at testing companies come and go….and sometimes just go.  At Family Tree DNA, I have some matches that must be trembling on the threshold that come and go periodically.  Now you see them, now you don’t.  I lost matches moving from the Affy chip to the Illumina chip and lost additional matches between Build 36 and 37.  Some reappeared, some haven’t.
  • The start and stop boundaries changed for some matches between build 36 and build 37.  I did not go back and readjust, as most of these, in the larger scheme of things, were minor.  Just understand that you are looking for  patterns here that indicate Native heritage, not exact measurements.  This process is a tool, and unfortunately, not a magic wand:)
  • The centromere locations change between builds.  If you have matches near or crossing the middle of the chromosome, called the centromere, there may be breaks in that region.  I enter the centromere start and stop locations in my spreadsheet so that if I notice something odd going on in that region, the centromere addresses are right there to alert me that I’m dealing with that “odd” region.  You can find the centromere addresses in the FAQ at Family Tree DNA for their current build.
  • At 23andMe, when you reach the magic 1000 matches threshold, you start losing matches and the matching criteria is elevated so that you can stay under 1000 matches.  For people with colonial American or Jewish heritage, in other words those with high numbers of matches, this is a problem.
  • Watch for matches that are related to both sides of your family.  If your family lived in colonial America, you’re going to have a lot of matches and many are probably related to each other in ways you aren’t aware of.
  • If your parents are related to each other, this process might simply be too complex and intertwined to provide enough granular data to be useful.
  • Endogamous groups are impossible to sort through as to where, meaning which ancestor, the DNA came from.  This is because the original group founders’ DNA is just getting passed around and around, with little or no new DNA being introduced.  The effect of this on downstream generations relative to genetic genealogy is that matches appear to be more closely related than they are because of the amount of matching DNA they carry.  For my Brethren and my Acadian groups of people, I just list them by the group name, since, as the saying goes, “if you’re related to one Acadian, you’re related to all Acadians.”
  • If you’re going to follow this procedure, save one spreadsheet copy with the Strong Native only and then a second one with both the Strong Native and Blended Asian.  I’m undecided truthfully whether the Mixed Asian adds enough resolution for the extra work it generates.
  • When in question, refer back to the original tools.  The answer will always be found there.
  • Unfortunately, tools change.  You may want to take screen shots.  During this process, FTDNA went from build 36 to 37, match thresholds changed, 23andMe introduced a new user interface (which I find much less intuitive) and GedMatch has made significant changes.  The net-net of this is when you decide to undertake this project, commit to it and do it, start to finish.  Doing this little by little makes you vulnerable to changes that may make your data incompatible midstream – and you may not even realize it.
  • This entire process is intensively manual.  My spreadsheet is over 5500 rows long.  I won’t be doing it again…although I will update my spreadsheet with new matches from time to time.  The hard work is already done.
  • This same technique applies to any minority ancestry, not just Native, although that’s what I’ve been hunting for and one of the most common inquiries I receive.
  • I am hopeful that in the not too distant future many of these steps and processes will be automated by the group of bright developers that contribute to GedMatch or via other tools like DNAGedcom. HINT – HINT!!!

I would like to follow this same process to identify the source of my African heritage, but I’m thinking I’ll wait for the tools to become automated.  The great irony is that it’s very likely in the same lines as my Native ancestors.

If You Want to Test

What does it take to do this for yourself using the tools we have today, as discussed?

If your parents are living, the best gift you can give yourself is to test them, now, while you still can.  My mother has been gone for several years, but her DNA archived at Family Tree DNA was still viable.  This is not always the case.  I was fortunate.  Her DNA is one of the best gifts she gave me.  Not just by inheritance, but by having hers tested.  I thank her every single day, for both!  I could not have written this article without her DNA results.  The gift that keeps on giving.

If you don’t have a parent to test, you can test several other family members who will provide some information, but clearly won’t carry the same amounts of common DNA with you as your parents.  These would include your aunts and uncles, your parents’ siblings and what I’ve referred to as your close cousin circle.  Attempt to test at least someone from each line.  Yes, it gets expensive, but as one of my cousins said, as she took her third or 4th DNA test.  “It’s only money.  This is about family.”

You can also test your own siblings as well to obtain more information that you can use to match up to your family lines. Remember, you only receive half of your parents DNA, and your siblings will received some DNA from your parents that you didn’t.

I don’t have any other siblings to test, but I have tested cousins from several lines which have proven invaluable when trying to discern the sources of certain segments. For example, one of these Native segments fell on a common segment with my cousin Joy.  Therefore, I know it’s from the Campbell line, and because I have the Campbell paternal Y-DNA which is European, I know immediately the Native admixture would have had to be from a wife.

Much of this puzzle is deductive, but we now have the tools, albeit manual, to do this type of work that was previously impossible.  I am somewhat disappointed that I can’t pinpoint the exact family lines, yet, but hopefully as more people test and more matches provide genealogical information, this will improve.

If you want to play in this arena, you need to test at either Family Tree DNA, 23andMe, or both.  Right now, the most cost effective way to achieve this is to purchase a $99 kit from 23andMe, test there, then download your results from 23andMe and upload them to Family Tree DNA for $99.  That way, you are fishing in both pools.  Be aware that less than half of the people who test at either company download results to GedMatch, so your primary match locations are with the testing companies.  GedMatch is auxiliary, but critical for this analysis.  And the newest tool, DNAGedcom is a Godsend.

Also note that transferring your result to Family Tree DNA is NOT the same thing as actually testing there.  Why does this matter?  If you want a future test at Family Tree DNA, who is the premiere genetic genealogy testing company, offering the most variety and “deepest” commercial tests, they archive your DNA for 25 years, but if you transfer results, they don’t have your DNA to archive, so no future products can be ordered.  All I can say is thank Heavens Mom’s DNA was there.

Ancestry.com doesn’t provide any tools such as the chromosome browser or even the basic information of matching segments.  All you get is a little leaf that says you’re related, but the questions of which segment or how are not answerable today at Ancestry and as CeCe’s experience proved, its unreliable.  It’s  possible that you share the same surnames and ancestor, but your genetic connection is not through that family line.  Without tools, there is no way to tell.  Ancestry released raw data files a few weeks ago and very recently, GedMatch has implemented the ability to upload them so that Ancestry participants can now utilize the additional tools at GedMatch.

Although this has been an extraordinarily long and detailed process, I can’t tell you how happy I am to have developed this new technique to add to my toolbox.  My Native and African ancestors have been most elusive.  There are no records, they didn’t write and probably didn’t even speak English, certainly not initially.  The only clues to their existence, prior to DNA, were scant references and family lore.  The only prayer of actually identifying them is though these small segments of our DNA – yep – down in the weeds.  Are there false starts perhaps, and challenges and maybe a few snakes down there?  Yes, for sure, but so is the DNA of your ancestors.

Happy gardening and rooting around in the weeds.  Just think of it as searching for the very best buried treasure!  It’s down there, just waiting to be found.  Keep digging!

I hope you’ve enjoyed this series and that it leads you to your own personal genealogical treasure trove!

treasure chest

The Autosomal Me – Extracting Data Segments and Clustering

This is Part 8 of a multi-part series, “The Autosomal Me.”

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.

Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.  Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.  In Part 5, “The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools,” we looked at 5 different third party tools and what they can tell us about our minority admixture that is not reported by the major testing companies because the segments are too small and fragmented.

In Part 6, “The Autosomal Me – DNA Analysis – Splitting Up” we began the analysis part of the data we’ve been gathering.   We looked at how to determine whether minority admixture on specific chromosomes came from which parent.

Part 7, “The Autosomal Me – Start, Stop, Go – Identifying Native Chromosomal Segments”, took a deeper dive and focused on the two chromosomes with proven Native heritage and began by comparing those chromosome segments using the 4 GedMatch admixture tools.

In this segment, Part 8, we’ll be extracting all of the Native and Blended Asian segments on all 22 chromosomes, but I’ll only be using chromosomes 1 and 2 for illustration purposes.  We will then be clustering the resulting data to look for trends.  If you’re following along and using this methodology, you’ll be extracting the Native segment start and stop locations from all 22 chromosomes.

I apologize in advance for the length of this article, but there was just no good place to break it into pieces.

So, let’s get started.  As a reminder, we are using the admixture tools at www.gedmatch.com.

I experimented with several types of extractions to see which ones best reflected the results found by both 23andMe and Dr. McDonald and confirmed by the start and stop segments in the highly Native segments of chromosomes 1 and 2 in Part 7 of this series.  We verified that all 4 tools accurately reflected and corroborated the segments listed as Native, so now we’re going to apply that same methodology to the rest of our chromosomal data.

Initially, I tried to use the information from chromosomes 1 and 2 to extract the Native chromosomes using only the “best” tool, but when I looked at all 4 tools, I quickly realized that there was no single “best” choice.  A couple of crucial points came to light.

  • Some of the geographic colors are almost impossible to tell apart.
  • None of the tools are universally best.
  • When looking at all 4 tools, generally a “best 3 out of 4” approach allowed for one of the tools to be wrong, to perhaps reference a slightly different data base that called the segment differently or for the colors to be indistinguishable.  In other words, if three called a segment Native and one did not, it’s Native and conversely, if less than 3 call it Native, in this comparison, it’s not.

Unfortunately, this created an awful lot of work.  This is probably the best example of where automation tools could and would make a huge difference in this process.

I did two separate extracts.  The first one is what I refer to as the “Strong Native” extract and the second is the “Blended Asian.”  In part, I did these separately as a check and balance to be sure that my first extraction was accurate.

In the first extract, I selected only one category, the one best fitted to “Native American” for each tool.  I used the following categories for each admixture tool:

  • MDLP – Amerind
  • Eurogenes – North Amerindian
  • Dodecad – NE Asian
  • Harrappaworld – American

I completed this process for every chromosome, but I’m only showing the first two chromosomes in this article.

By way of example, using the first tool, MDLP, North Amerind looks black, but is actually very dark grey.  It is, fortunately, distinctive.

On the chromosome painting below, my results for the first part of chromosome 1 are shown in the first band, and mother’s for the same segment are shown as the second band.  The bottom band represents common segments and the black is non-matching segments, meaning those I obtained from my father.  Sometimes this third band can help you determine what you are really seeing in terms of colors and blending, but it’s not always useful.  In this case, trying to spot a small amount of dark gray against black is almost impossible, so not terribly helpful.  But if you were looking for red, that would be another story.  As you move through this process, remember, it’s not exact and utilizing best 3 of 4 will help you recover from any major errors.

You can see that my grey segments show up from about 12-13 and then again at about 14.5.  Sometimes it’s difficult to know how to count something.  For example, my Native at 14.5 – it’s actually more like 14.25 -14.5, but I chose not to divide further than half mb segments.  As long as you are consistent in whatever methodology you select, it will work out.

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Please note that when reading these charts, that the small hash mark is the indicator for the measure.  In other words, the small hash mark above 10M means that is the 10M location.  It’s obvious here, but on some charts, the hash mark and the location legend look to be 1-off.  Again, as long as you’re consistent, it really doesn’t matter.

Mother’s Native segments are more pronounced and obvious.  They range from about 8-14.  Using the actual tools, you would record this and then continue scrolling to the right until you reach the end of the chromosome.  On chromosomes 1 and 2, I found the strong Native segments for the four admixture tools, as shown below.

The boxed numbers show the areas that were found “in common” between 23andMe, Dr. McDonald and the admixture tools, as determined in Part 7 of this series.  Highlighted segments show segments where at least 3 of 4 admixture tools reported Native heritage.  As you can see, there were clearly additional Native segments not reported by 23andme and Dr. McDonald.

Strong Native Chromosomal Detail Table

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Because we have both my and mother’s results, we can infer my father’s contribution.  Clearly, some of his will wind up being some amount of “noise” and some IBS segments, but not all, by any means, and this is the only way to get a “read” on Dad.  This is one form of phasing data.  Phasing refers to various methodologies of figuring out which DNA comes from what source, meaning which parental line.

While the strongest Native segments are the ones individually most likely to indicate Native American ancestry, that really isn’t the whole story.  I discovered that many of these Native segments are actually embedded in other segments that are indicative of Native heritage too.  In other words, it’s not a line in the sand, yes or no, but more of a sliding scale.

On the chromosome painting below, this one using Eurogenes, with my results shown above and mother’s below, you can see two excellent examples.  Regions relevant to Native ancestry include:

  • Red – South Asian
  • Brown – Southwest Asian
  • Yellow – North Amerindian and      Arctic
  • Putty – Siberian
  • Emerald – East Asian

You can see that while mine is almost universally yellow, or Native, with a little Siberian (putty) mixed in for good measure between 169-170, a hint of East Asian (emerald) plus a little Asian (red), mother’s isn’t.  In fact, hers is a mixture of Native American and South Asian (red), with more red than yellow,  Siberian (putty) and a large segment of East Asian (emerald green).

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While her yellow Native segments alone would be staggered across this entire segment in 7 different pieces, when taken together as a whole, the “blended Asian” segment reaches entirely across the screen with the exception of 1 mb between 161.5-162.5, roughly.

The following Blended Asian Chromosomal Detail Table shows all of the blended Asian segments using all four of the admixture tools for chromosomes 1 and 2.

It’s clear that these regions are not solely “Native American” but reach back in time genetically into Asia, particularly Northeast Asia.

Again, the boxed numbers show the “in common” segments between all tools and the yellow highlighted segments are common between at least three of the four admixture tools.

Please note that there were some issues distinguishing colors, as follows:

  • For the MDLP comparison, Mesoamerican and Paleo Siberian are both putty colored and indistinguishable on the chart.  Also, the apple green for Arctic Amerind is very similar to the Austronesian.
  • When using Dodecad, Southeast Asian (light green) and South Asian (apple green) are nearly impossible to distinguish from each other on the graphs.
  • When using HarappaWorld, the apple green for Siberian was very similar to the light forest green for Papua New Guinea and was very difficult to distinguish.  The South Asian putty appears often with the other Native markers, and I considered including this group, but it too was difficult to distinguish from other regions so in the end, I opted not to include this category.
  • If you are colorblind – get help as this is impossible otherwise.

Blended Asian Chromosomal Detail Table

On the blended Asian Chromosome Detail Table, I added yellow highlighting where the same segments show in other Asian geographies that showed in the Strong Native table.  In each column, the Strong Native category is the last one at the bottom of the list.

The blue highlighting shows other common segments found that were not included in the Strong Native segments.  For a Strong Native yellow segment to be highlighted, it had to be present in 3 of 4 tools, or 75%.  In the Blended Asian group, there are a total of 15 categories between the 4 admixture tools, so for a segment to be shaded blue, it must be found in at least 8 of the categories, so just over half.  There are many segments that are found in several categories across the tools.  For example, segment 192-193 on chromosome 1 is found five times.  This isn’t to say you should discount this segment, only that it isn’t one of the strongest, most universal.  Surprisingly, there really weren’t too many that were close to the cutoff.  Several, but not a majority, were in the 4 or 5 range, only one was at 7.

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Clustering

The third step in data extraction is to look at all of the data together.  In this step, we are removing the geographic boundaries of Siberian, N. Amerindian, etc. and combining all of our data.  I have only combined the data within columns, not between columns, so we can get a feel for which tool or tools performed best or maybe not so well.  Each chromosome in each column has its data ordered numerically, and yes, this is a manual cut and paste process.  Sorry.  I warned you, this is an very manually intensive process.

After I put each column in numerical order, I arranged them so that the numbers were approximately in a line, or a row, with each other.  For example, in the first group below, you can clearly see that the first cluster of results is found using all 4 tools.  When looked at individually, only the blue results were noted as common (at least 8 of 15 for blue), but when viewed as a cluster, you can see between the tools that the cluster itself runs from about 7.5, with a small break from 8-9, and then to about 14.5.  As you would expect the beginning and end points of the cluster trail off and are not uniform between tools, but the main part of the cluster is found in all the tools.  This introduces the question of how to measure a cluster.  In this case, there is a clean break using all tools between 8 and 9, but that is only 1 mb, rather difficult to measure accurately.  You could record this as two distinct clusters but since it’s very closely adjacent the rest of the cluster, I’m inclined to include this as one large cluster and use the starting and ending segments for the cluster as a whole, in other words, the cluster runs from 7.5 through 14.5.  The alternate, or more conservative methodology would be to use the “in common” numbers, but in this case, that would be only 10-11.5 and I think you would miss a great deal of useful data.  So, for clusters, I’m recording the full extent of the cluster.  In some cases, you may need to exercise a judgment call.

Let’s look at the second group of numbers, beginning with 18.5 in Harrappaworld.  This grouping runs though about 28.  Eurogenes found some blended Asian between 27-28.5 as well in two of the geographies, but over all, of the 15 tools, we don’t see much.  This could be a result of a number of things.  I could have had problems with the colors, there may be only a very small amount and it may be categorized as something else with the other tools.  I would not consider this a cluster, and using our best 3 or 4 methodology eliminates this cluster from consideration.  This also holds true for 43-43.5.

However, the next cluster, from 55.5 to 58 is found in the Strong Native comparison, indicated by the yellow highlighting and is found using all 4 tools.  This is definitely a cluster.

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I’ve synthesized the cluster information into a list.  From the clusters above, I’ve created a list that I will be using in the next segment for data input into my spreadsheet of matches.  The blended segments below that include Strong Native segments are shown with yellow.

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Using the GedMatch admixture applications, we’ve isolated the strongest Native and the Blended Asian segments and clusters in preparation for identifying specific Native family lines within our group of matches.

This process shows that, for the most part, the Strong Native segments picked up the strongest signals, about half of the segments that will be useful in determining Native admixture, although it does miss some.

When we use the clustering technique to view our results across all the admixture tools, we see a somewhat different picture emerge, adding several Blended Asian clusters.

In Part 9 of this series, we will use the highlighted Strong Native segments and the Blended Asian clusters, both of which suggest Native chromosomal “hotspots” to begin our comparison to our genetic matches for genealogical relevance.  In other words, using this information, we will determine which genealogical lines carry Native ancestry.

Part 9 may be somewhat delayed.  The good news is that Family Tree DNA is finishing work on their Build 36 to Build 37 conversion.  The bad news is that it fell right in the middle of writing this series.  When they finish Build 37, I’ll finish Part 9 of this series.  In the mean time, you can be extracting your minority segments using the tools and techniques that we have covered in Parts 1-8.

The Autosomal Me – Start, Stop, Go – Identifying Native Chromosome Segments

This is Part 7 of a multi-part series.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.

Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.  Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.  In Part 5, “The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools,” we looked at 5 different third party tools and what they can tell us about our minority admixture that is not reported by the major testing companies because the segments are too small and fragmented.

In Part 6, “The Autosomal Me – DNA Analysis – Splitting Up” we began the analysis part of the data we’ve been gathering.   We looked at how to determine whether minority admixture on specific chromosomes came from which parent.

Part 7 – “The Autosomal Me – Start, Stop, Go – Identifying Native Chromosomal Segments”, takes a deeper dive and focusing on the two chromosomes with proven Native heritage, begins by comparing those chromosome segments using the 4 GedMatch admixture tools.  In addition, we’ll be extracting Native segment chromosomal start and stop addresses that we’ll be using in a future segment.

Using Doug McDonald’s tool and the 23andMe results, we can begin with the following two Native segments, one each on chromosome 1 and 2.  These will be our reference points, because according to both sources, these are the largest and most pronounced Native segments, the strongest indicators, so they will be our best yardsticks.

  Chromosome 1 Chromosome 2
23andMe

165,658,091 to 175,711,116

86,316,174 to 103,145,426

McDonald

165,000,000 to 180,000,000

90,000,000 to 105,000,000

On all of these admixture graphs, my results are shown first, then mother’s, then the comparison between the two where the colored regions show common ancestry and the black shows nonmatching segments – in other words those contributed by my father.

Please note that Native contribution in this analysis is being evaluated by a combination of geographies.  In some cases, one individual will show as “Native” meaning in the case of MDLP “North Amerindian” and the parent (or child) will show as something similar, like “Actic,” “South American” or “MesoAmerican.”  In order to normalize this, I have combined all of the geographies that are Native indicators.

MDLP

On the MDLP graph below, the legend indicates that these 4 regions are relevant to Native ancestry.

  • Army green – Mesoamerican
  • Lime Green – Arctic
  • Emerald – South American Indian
  • Grey – North Amerindian

Chromosome 1 – Native Segment

On the graph below, you can see that mother has more grey than I do from about 162-165, but then I have some grey that she does not at about 170.

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A detailed analysis of the segment of chromosome 1 between 158-173 shows the following admixture:

On my results, the putty green, MesoAmerican, is scattered between about 158 and 173, in three segments.  The putty green in my mother’s segments are from 159-160.5 and then 167-170.5.  Therefore, my father, by inference has a segment from about 162-165 and from about 170.5 to 173.

My teal, North Siberian, ranges from 162-163 and from 168-171.  My mother carries no teal in these segments, so this is inferred to be contributed from my father.

My dark grey, North Amerind, ranged from 162-165.5 and then from 168-169.5.  My mother’s range is from 161-165.5.  Therefore my grey segment at 168-169.5 is either recognized as MesoAmerican or Arctic Amerind in my mother.

Chromosome 2 – Native Segment

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Chromosome 2 is quite interesting.  You can see that on my chromosome, the North Siberian begins at about 80.  Mom has none at that location.  My North Amerind begins at about 95 and extends to 105, where Mom’s begins in the same location but then transitions to a large segment of MesoAmerican which I do not carry.  I do have MesoAmerican, but mine begins about where hers ends and extends to about 105.  Mom’s North Amerind ends about 101, while mine continues to about 105.  She looks to have trace amounts beginning about 105 and extending through 115.

Eurogenes

The next graph shows the same chromosomes using Eurogenes.  Regions relevant to Native ancestry include:

  • Red – South Asian
  • Brown – Southwest Asian
  • Yellow – North Amerindian and Arctic
  • Putty – Siberian
  • Emerald – East Asian

Chromosome 1 – Native Segment

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The difference between my chromosome 1 and my mother’s in this region is quite pronounced.  My mother’s is drenched in beautiful red South Asian, while I have absolutely none.  Some of the area where I have North Amerindian shows as South Asian on hers, but in other areas, there is no correlation.  It is expected of course, that there are areas where she has some ancestry and I have none, due to the fact that I only inherit half of her DNA, but she has a significant segment of East Asian between 163 and 164, and I look to have received only a very small portion.  The same is true of her Siberian segments at 163-164, but then I have Siberian that she does not at 169-170 and she has some that I don’t at 160-161.5.  Some of this difference can likely be explained, especially between the yellow North Amerindian and the red South Asian by slight differences in the DNA read and how it is categorized, but in other cases, the difference is real.  Looking at mother’s red segments from about 166.5 to about 168 and then looking at my corresponding region, you can see that I have nothing that hints at Native.  In that region, I clearly inherited from my father as well as my mother’s North European.

Chromosome 2 – Native Segment

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As different as our chromosomes 1 were, one wouldn’t expect chromosome 2 to be so similar.  In the graph, I included my large South Asian segment surrounding 80, where Mom has a trace, although that is beyond the area indicated as Native by 23andMe and Doug McDonald.  In the range of interest, beginning at about 80, we find nothing until about 94 where mother and I both have North Amerindian segments that stretch through about 105.  Mom’s goes slightly further than mine, to about 105.5.  It’s interesting to note that in part of this region, on either side of 101, her Siberian and my North Amerindian are the same shape at the same location, so obviously the same DNA is being read and categorized as two different regions, probably due to my father’s admixture.

Dodecad

On the Dodecad graph of the Native segment, you can see the Native colors are in shades of green.

  • Putty – West Asian
  • Yellow-green – South Asian
  • Emerald – Northeast Asian
  • Light Green – Southeast Asian

To use Dodecad in an equivalent manner as the rest of the tools, it looks like Northeast Asian is the closest we would get to Native American since that is where Native Americans lived just prior to crossing Beringia, so the greens should probably be evaluated as a group.  As can be seen on chromosome 1, they do clump together.  Even though West Asian is also found with this group, it seems to be outside the range, so I am not including it in the evaluation.

Chromosome 1 – Native Segment

You can see another example here of one segment being called South Asian in Mom’s and Northeast Asian in mine at about 170mb.

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The Native, or in this case, Northeast Asian/Southeast Asian begins at about 162.5 where Mom’s and mine are very similar.  However, we diverge at about 164.5 where Mom begins with large segments of South Asian.  I have a little bit, but not much.  Beginning about 168, I have a large Northeast Asian segment, but she shows with South Asian there, although the segments are not exact.

Chromosome 2 – Native Segment

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Chromsome 2 is quite simple using Dodecad.  Only two of the three groups appear.  Southeast Asian is absent, South Asian is present only in trace amounts except for one small area between 79.5 and 80 on my chromosome.  As expected, Northeast Asia is more prominent.  Mother has a few areas that I don’t, which is to be expected.

HarrappaWorld

Last, we have HarrappaWorld.  American and Beringian are the Native American categories here.  Regions relevant to Native American heritage would be:

  • Teal – American
  • Periwinkle – Beringian
  • Lime Green – Siberia
  • Emerald – Northeast Asia

Chromosome 1 – Native Segment

You can see both Beringian and American embedded again at about location 169.  In mine, this entire block reads as American.

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There is one large chunk of Northeast Asian showing for both results, but part of that region of my chromosome, between 163-164 shows as American instead of Northeast Asian.  The Beringian is scattered through the American, which I would expect.  The American runs either strongly or weakly through this entire segment from 163 to 175 in mine or to 179 in mother’s.  Surprisingly there is no Siberian at all.  I would have expected to see Siberian before Northeast Asian.

Chromosome 2 – Native Segment

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Where on chromosome 1, we saw no Siberian, on chromosome 2, we find Siberian instead of Northeast Asian.  I have no Beringian, but mother has 4 segments.  Three of her 4 segments are embedded with American segments.  Two may simply be categorized differently in my results, but two, I did not inherit.

Analysis Discussion

What have we learned?

When we are dealing with small amounts of minority admixture, they may or may not be able to be picked up directly by the testing companies.  Of course, part of this has to do with their thresholds for what is “real” and reportable, and what isn’t.  Aside from that, lack of identification of minority admixture probably has to do with which segments were inherited and their size, if they have been isolated and identified as Native by population geneticists, and the robustness of the data base sources the data is being compared against.

We can also see how difficult it is to sort through threshold matches, meaning what is Native, Asian, central Asian, etc.  Many of these differences are probably not actually differences between groups, but similarities with slight categorization differences.  Of course, it’s those differences we seek to identify our ancestral heritage.  Combining similar geographies may help reveal relationships masked my reporting and categorization differences.

Given that multiple sources have indicated Native ancestry, and on the same two chromosomes, I have no doubt that it exists.  Had any doubt remained, the exercises creating the MDLP Chromosome Map Table and reviewing the segments on chromosome 1 between 160 and 180mb would have removed any residual concerns.

The following table shows the results for the Native segments of chromosomes 1 and 2 beginning with the 23andMe and McDonald results, and adding the start and stop segments from each of the 4 admixture tools we used.

  Chromosome 1 Chromosome 2
23andMe

165,658,091 to 175,711,116

86,316,174 to 103,145,426

McDonald

165,000,000 to 180,000,000

90,000,000 to 105,000,000

MDLP

162,000,000 to 173,000,000

80,000,000 to 105,000,000

Eurogenes

162,500,000 to 171,500,000

79,000,000 to 105,000,000

Dodecad?

162,500,000 to 171,000,000

79,500,000 to 105,000,000

Harrappaworld

163,000,000 to 180,000,000

79,000,000 to 104,000,000

In Common

165,658,091 to 171,000,000

90,000,000 to 103,145,426

Although the start and end (or stop) segments vary a bit, all resources above confirm that the region on chromosome 1 between 165,658,091 and 171,000,000 is Native and on chromosome 2, between 90,000,000 and 103,145,426.  Those are the areas “in common” between all resources, which is shown in the last table entry.

The concept of “in common” is important, because while any one resource may report something differently, or not at all, when all or most of the resources report something the same way, it is less likely to be a fluke or reporting issue, and is much more likely to be real.  We’ll be using this methodology throughout the rest of the articles in “The Autosomal Me” series.

In the next segment, Part 8, we’ll be extracting the actual start and stop addresses of the Native only segments, referred to as the “Strong Native” method, and the combined Native indicator segments, referred to as the “Blended Asian” method and looking at how we can use those results.

The Autosomal Me – DNA Analysis – Splitting Up

DNA Analysis purchased 1-24-2013This is Part 6 of a multi-part series.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.

Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.  Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.  In Part 5, “The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools,” we looked at 5 different third party tools and what they can tell us about our minority admixture that is not reported by the major testing companies because the segments are too small and fragmented.

In this segment, Part 6, “DNA Analysis – Splitting Up” we’re going to focus on specific aspects of those tools and begin our analysis of our minority ancestry.

Analysis.  Sounds like I’m climbing on the shrink’s couch.  But I’m not, I’m saving all my dollars for DNA kits!  Besides, I don’t want to stop!  This analysis, we’ll do by putting several pieces of data together and sorting the wheat from the chaff.  And yes, we’ll be splitting up…well…splitting our DNA up into pieces contributed by our father and mother.

Let’s start with looking at the DNA segments that mother and I share that are Native.

According to Doug McDonald, we have significant Native matches on chromosomes 1 and 2, with third party tools confirm that finding.  Unfortunately, the only company where Mom’s DNA resides is Family Tree DNA whose test did not reveal the Native ancestry.  23andMe did confirm Native segments in my DNA in those locations.

I’ve used several third party tools at GedMatch to see where Mom and I both have Native heritage, where she has it and I don’t, and equally as important, where I have it and she doesn’t?  What is that so important?  Simple, it means my father had Native heritage too, and tells me on which chromosomes his Native DNA is located  This could, when matching people in the future, on particular segments, help to isolate who our common Native ancestor was, or at least which line.  That is the ultimate goal we are working towards with this entire process.

In this case, to identify my father’s Native lines, if Mom and I neither or both have Native markers at a particular chromosome location, the values are irrelevant, because the Native lineage came from mother.  I did notice in a few cases that I had more than mother, and of course, in that situation, it means that my father contributed some too, or my mother had a misread in that region or a categorization issue exists.  For that reason, I am looking for patterns, not single instances.  We’ll discuss using patterns in a future segment.

Using the MDLP chromosome mapping tool, as MDLP appears to be the most comprehensive, I created a spreadsheet using my results as a base.  I then added mother’s values in the spaces where I had no values, and then I highlighted my results in the locations where mother had no value.  The essence of this is that the red, bold, underscore values mean Mom had a Native result here, but I didn’t receive it.  A yellow highlighted cell means I got the entire amount from my father, because my mother has no percentage showing.  In other cases, of course, it’s possible that both mother and father contributed Native ancestry on some adjacent chromosome segments.  The MDLP mapping tool with my additions is shown below for chromosomes one through eight.  Chromosomes 9-22 are similar, but the chart is too big to display as a whole.  This provides an example of how to do this analysis with your own results.

MDLP Chromosome Map Table

The results were very interesting.

My two primary regions, North-East-Europe and Atlantic-Mediterranean-Neolithic, were represented on every chromosome for both my mother and myself.  No surprises there.  The other regions would be considered minority admixture.

In 2 categories, North-European-Mesolithic and East Siberian, only my father contributed genetic material on some chromosomes and there were no chromosomes where my mother alone contributed.

In 1 category, Melanesia, only my mother contributed genetic material on some chromosomes and there were no chromosomes where my father alone contributed.

In all other categories, both parents contributed on some chromosomes where the other didn’t.  This is important, because it will allow me to associate a match with a particular segment of a chromosome on a particular parent’s side with Native ancestry.

In the minority categories for Native American, Mesoamerican, Arctic-Amerind, South America Amerind and North Amerind, grouped together, both parents contributed on some chromosomes where the other didn’t, and in two categories, on 3 chromosomes, I carry more than my mother, indicating an additional contribution from my father.

This is a repeated occurrence, with Native ancestry for my parents and I combined showing on a total of 42 chromosome locations across 4 geographic/ethnic categories, and in at least three cases, both parents contributed.

In the African categories, South African, Sub-Saharan and Pygmy, I had contributions from both parents on a combined total of 18 chromosome segments.  The African admixture, in total, was less than the Native, and they are assuredly below 5% combined.  If they were present at higher levels, I wouldn’t need to go through these genetic gyrations to prove or disprove the heritage and which parent contributed, because it would be evident in the testing results of all companies.

In our next segment, Step 7, we will be further scrutinizing Chromosomes 1 and 2 for additional information about Native heritage and assigning specific Native segments that I carry on various chromosomes  to either my mother or father’s lineage.

The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools

This is Part 5 of a series.

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.  Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.  Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.

In this segment, Part 5, we’re going to look at various third party tools and what they can do for our search for minority admixture.  We will use the download files from either 23andMe and Family Tree DNA and utilize third party tools to analyze the raw data.  We’ll see how third party developers put those puzzle pieces together, if the results are consistent and what they tell us.

The Weeds

When dealing with testing companies, particularly any individual source (as opposed to multiple testing company results, as I have done), minority admixture, especially less than 1% may not be successfully recognized.  One percent equates to between 6 and 7 generations or about to the 1800 threshold in time.  However the history of both African and Native admixture in colonial America goes back another 200 years to the Jamestown era.

The social history in the US means that there are many people looking for this admixed heritage as long ago as 1609 when Jamestown was established and the first European/Native marriages took place (although there were “blonde Indians” reported by Jamestown settlers).  In round numbers, that’s about 400 years or between 13 and 16 generations.  Of course, a minority ancestor drops below the 1% threshold between 7 and 8 generations (with the first generation being the person tested) and by the time you get to the 12th generation, you’re at .048%.  At this level, Bennett Greenspan says we’re “rooting around in the weeds,” and he’s right.

However, rooting around in the weeds for those dreaded IBS (Identical by State) segments in genealogy is exactly what we need when looking for small amounts of minority admixture.  What’s an IBS segment you ask?  It’s a segment that is typically too small to be counted as an IBD, or identical by descent, segment.  IBS means that you’re from a common population if you match someone with a very small segment, not necessarily that you share a common ancestor within the past several generations.  But how to you tell if a small segment is IBS or IBD?

There is no absolute line in the sand, but often segments smaller than 7cM (centimorgans) or 700 SNPS (some say 5cM and 500 SNPs) fall into the IBS category.  This has caused some researchers to discard all segments of this size because they can’t tell the difference.  That’s unfortunate, because clearly some of these segments are IBD and the IBS segments can be useful too.

When looking for minority admixture in two people, both of them having these small segments in the same location can provide meaningful information, and can confirm minority heritage.  Said another way, if two people have less than 1% Native heritage, both share a common ancestor, and both carry part of their “less than 1%” on the same segment….one might say it’s not likely to be coincidence.  Identifying the common segments of your common ancestor can lead to identifying the specific family line those segments came from, especially if you match others as well.  This is in essence what Minority Admixture Mapping, or MAP, does.  It uses these techniques to look for patterns in these small fragmented pieces that, when taken together, indicate minority heritage.  Having said that, some IBS segments will indeed, be simply that, because you share the same base population, but some will be IBD, or more current in time.  With the MAP technique, we’re sorting through ways to utilize these small segments, whether they are IBS or IBD.

Using the tools, MDLP, Eurogenes, Dodecad and HarrappaWorld at GedMatch allows us to “root around in the weeds,” to quote Bennett, and find those all-important small IBS/IBD segments that connect us to a particular ethnicity and ultimately, to other relatives who carry these same segments in the same locations.

In general, using these this type of DNA is called BGA, or Biogeographical Ancestry where we use SNPs of autosomal DNA called AIMs, Ancestry Informative Markers.  A SNP is a Single Nucleotide Polymorphism, or a mutation that happened in one specific location on a gene.  AIMs are generally SNPs, not clusters of markers, found at different frequencies in different populations.  We combine all we know about them scientifically with information about population frequencies and then draw inferences about where our ancestors came from based on that information.  So a SNP that is useful in determining ancestry is called an AIM.

These SNPs, or AIMs, are the foundation for these BGA tools that we will be using to sort through small segments of minority admixture.  So this is a building block process.  Scientists identify SNPs found in different populations at different frequencies and identify them as such, then scientists and genetic genealogists create BGA tools that use and combine SNPs/AIMs to suggest populations and ethnicities for those who carry them.  Using these tools, majority ancestry is easy to discern.  We’re going to use those tools to look at groups of SNPs/AIMs clustered in small, fragmented IBS or IBD segments to do Minority Admixture Mapping (MAP) to confirm our minority admixture and to identify our minority admixed lines, families and perhaps even (in time) our original minority ancestor.

I bet you thought I couldn’t fit all of those acronyms in one paragraph, but I did:)  It is a bit like alphabet soup, but when you understand that this is a building process, it’s much easier to grasp as a whole.

Having at least one parents DNA makes this process much easier, because you can immediately tell if your other parent, by inferrence or process of elimination, has contributed any of the minority ancestry, or if it’s all on one side of the tree.  Of course, that’s assuming your parents aren’t related to each other.  There’s a test for that too at GedMatch.  If you don’t have one parent available, you can “make do” with aunts, uncles and cousins, but it’s a much more tedious process.

Third Party Tools

To use any of these BGA tools, you’ll need to download your results from either 23andMe, Family Tree DNA or National Geographic.  Currently at GedMatch, the only supported formats are 23andMe or Family Tree DNA, because the National Geographic test is so new.  I used my Family Finder (Illumina Build 36) raw data file.

To download your results from 23andMe, sign on to your account, then click on this link and it will take you to the area to download your results.

https://www.23andme.com/you/explorer/

Save the file and do not open it as the act of opening it sometimes causes corruption and you will have a hard time uploading the file.  If the upload fails, download a new copy and start over.  If you have an older copy on your computer, it’s always a good idea to use a fresh copy to incorporate any changes made by the vendor since your last file download.

To download your results from Family Tree DNA, sign on to your personal page, click on the Family Finder tab and then on “Download Raw Data.”  As I write this, Family Tree DNA is in the midst of a conversion from Build 36 to Build 37 for their autosomal files (in order to facilitate the integration of 23andMe results), so you may need to be a bit patient while this process completes.  Files may not be available for download at some points.  You certainly don’t want to mix comparisons, meaning using one build 36 and one build 37 file for comparison.

If you’re following this process yourself with your own data, please read all the way through this posting before starting your own processing.

Now, let’s look at the third party tools.

Stanford University

This tool is available at Stanford University.  Scientists have collaborated to provide this service and I think it’s quite interesting.  This tool is not compatible with any browser except Chrome and it requires a download of your autosomal data in a .txt file.  If it can’t load your file, the loading task simply never completes.  For me, that meant it wasn’t a .txt file I was trying to load.

http://esquilax.stanford.edu/

Load your file and choose Ancestry, then Paintings, then Hap Map 3 (experimental), then Paint my Chromosomes.

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Their legend, above, translates to the regions, below.

ASW – African ancestry in Southwest USA

CHD – Chinese in Metropolitan Denver, Colorado

GIH – Gujarati Indians in Houston, Texas

LWK – Luhya in Webuye, Kenya

MEX – Mexican Ancestry in Los Angeles

TSI – Toscani in Italia

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Unfortunately, this isn’t terribly useful.  Hap Map 3 utilizes additional regions, including Utah, but this tool doesn’t seem to be mapping them, so my closest match region is Italy, which is midleading since none of my family was from Italy.  Hap Map 2 is also an option which does include the Utah population, but it’s not as up to date otherwise as Hap Map 3.

David Pike has figured out how to tweak these settings some.  You can read about it at this link:  https://www.23andme.com/you/community/thread/8062/.  David’s posting on June 20th shows what he did.  However, compared to the other tools available, I find this a poor choice and did not spend a lot of time trying to work with it.

However, a second feature that they provide is fun.

Stanford provides a Neanderthal tool that’s a little different than the Nat Geo or 23andMe ones.  Click on Explore, Neanderthal, Look Up Exercise.  Then enter your primary ethnicity and click on Look Up Exercise again.

Of a possible 84 Neanderthal alleles, I have 9, partially displayed below.

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GedMatch

www.Gedmatch.com is a complimentary (voluntary contribution) site created by two genetic genealogists that includes several autosomal analysis tools.  One of the areas of this site is “Admix Tools.”  On that page one finds several private or proprietary tools, some written by genetic genealogists, some by researchers, and all free.  Let’s take a look at each one and their results.  If you want to see any of the results more closely than the photos here allow, you can run each of the comparisons using kit F6656 (mine) as the first kit and kit F9141 (my mother) as the second kit.

Each of these tools offers the same functionality, as follows.

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We will be utilizing 4 of these functions for each tool.

  • Admixture Proportions
  • Admixture Proportions by Chromosome
  • Chromosome Painting
  • Paint Differences between 2 kits, 1 chromosome

We select from the tools as follows:

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Let’s take a look at what the tools provide.

MDLP World 22

The MDLP software is sponsored by two genetic genealogists.  You can read more about the project at http://magnusducatus.blogspot.com/ and http://magnusducatus.blogspot.com/2012/09/behind-curtains-mdlp-world-22-showcase.html.

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MDLP shows several populations.  I was interested to see if my mother also shared the African percentage.  Interestingly, mother does have a South African segment, but it’s .12, so less than mine.  Therefore, I would have obtained part of my African heritage from my father.  She also has three different categories of Native American heritage, compared to my one.  She carried a total of 1.92% and I carry .58%.  Otherwise, our results are very similar.

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The next feature is ethnicity mapping by chromosome.  While the display is too large to see well it’s interesting to note that indeed, both Native American and African were detected on several chromosomes, not just on chromosomes 1 and 2 as reported by 23andMe and Dr. McDonald.  Note that DeCode Genetics showed “East Asian” admixture on several chromosomes.

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Here’s a portion of the above chart that you can actually see.  The highlighted blue regions are your major ethnic regions.

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Another feature is chromosome painting, shown below.  This shows the first part of my chromosomes 1 and 2 painted by ethnic/regional breakdown.  The legend for each tool is different and above their graph.

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These tools also provide the ability to compare one chromosome between two people.  On the graph below, my chromosome 1 is on the top, and my mother’s is second, with the third band being our common painting.  The black represents non-shared regions, meaning those contributed to me by my father.  Unfortunately, North American Native American is dark grey, sometimes difficult to distinguish from black.

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The graph below shows that while I do share a large piece of Chromosome 1’s Native region (about 160-180mb) with my mother, there are also segments, 169-170 for example, where I have Native genes that she does not, indicating Native heritage in this location from my father’s side.

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Eurogenes K9

Eurogenes was created by another genetic genealogist.  You can read more about it at http://bga101.blogspot.com.au/2012/04/eurogenes-admixture-utilities-at.html.

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Eurogenes calls me primarily North European with .67 Native American and no African in the percentages above, but below, on the individual chromosomes, some African does show, although not on as many chromosomes as MDLP.

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In the charts above and below, you can see that Eurogenes detected small amounts of African along with Native American.

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Notice that at about 10mb on chromosome 1, on the graph below in the top band, that the North American Indian (yellow) and the South Asian (red) are imbedded with each other.  These appear again together at the beginning of chromosome 2, shown as the second band.  This hints at how and why it’s sometimes so difficult to determine and filter Native American from Asian.  There is no line in the sand, there is a continuum between populations, the only differentiator being 10,000 to 15,000 years spent apart in which time, they, hopefully, developed enough differentiating mutations that we can tell them apart.

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On the chart below, the top band shows the chromosome painting of my chromosome, and the second band shows the chromosome 1 Native American segment (about 160-180 mb) of my mother with the third band showing both matching and non-matching regions, painted black.  Looking at the segment of chromosome 1, in the graph below, characerized as Native, we can see in mine, top row, that this is categorized as Native American (yellow), but some of the same regions below, in Moms are categorized as South Asian (red), causing a technical non-match, when in reality, It’s likely a categorization issue, not a genetic mismatch.  In future analysis, we’ll be using two methods of comparison, one called “Strong Native” that only matches Native to Native and another, the “Blended Asian” method that allows for grouping of similar ancestral types that together likely indicate a Native heritage.

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Dodecad V3

Dodecad was created by an anthropologist.  You can read more about it at http://dodecad.blogspot.com/ and http://dodecad.blogspot.com/2011/06/design-of-dodecad-v3.html.

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Dodecad, unfortunately, does not subdivide into Native American, so the Native will show here as some form of Asian.  Northwest Africa shows in the percentages above, but more detailed African heritage shows in the chromosome detail below in regions not shown above.

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Above, my chromosome painting for the first part of chromosomes 1 and 2.

Below, the comparison showing the Native segments from about 160-180mb.   My Native segment (top) compared to mother’s (middle) with the comparison of the two on the bottom for chromosome 1.

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HarappaWorld

HarappaWorld divides results into fewer population groups and is focused on Asia.  You can read more about it at http://www.harappadna.org/2012/05/diy-harappaworld/.

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In HarrappaWorld, Beringian and American appear to be equivalent to Native American.  Like Dodecad and Eurogenes, African does not show in the total percentages, but does on the individual chromosome analysis, although in smaller percentages with this application.

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Chromosome painting of my chromosomes 1 and 2 are shown below.

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The graphs below show the Native region comparison of chromosome 1 between me, top row, mother, middle row, and the third graph showing the common areas, with black representing areas where there is no match.

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For each of these tools and their results, we’ll do further analysis in a future segment of this series.

Tools Summary

Now that we’ve looked at these individual tools,  and building on the Test Results Chart created in Parts 3 and 4, let’s compare and see what information these tools add.

Test Results Chart Including Third Party Tools

Test/Company European Asian Native African Unknown
Pedigree Analysis

75%

0

~1%

0

24%

Testing Companies
Family Tree   DNA – Original

100%[1]

0

0

0

deCodeme

92%

5%

Inferred[2]

3%

deCodeme –   X

91%

6%

Inferred

3%

Dr.   McDonald

97-99%

1-3%

0.5%

0

23andMe –   Original

99%

1%

Inferred[3]

0

0

23andMe –   2012 – Standard

99.2%[4]

0

.5%

0

.3%

23andMe –   2012 – Conservative

98.7%[5]

0

.3%

0

1%

23andMe –   2012 – Speculative

99.3%[6]

0

.5%

0

.2%

Family Tree   DNA – 2012

100%[7]

Geno 2.0

79%[8]

18%

0

0

0

Ancestry

92%[9]

0

0

0

8%

Third Party Tools
MDLP

86.68%

12.55%

.58%

.17%

0

Eurogenes

94.83%

4.5%

.67%

0

0

Dodecad

85.47%

13.43%

Inferred

1.09%

0

HarrappaWorld

86.56%

12.80%

.65%

0

0

Of the various chromosomes, the breakdown is as follows. Dodecad does not break the categories in a comparable fashion to these other 3 tools, so their results are omitted in the following chart.  Please note that how geographies are categorized can make a significant difference.

Minority by Chromosome Chart

Tool/Chr MDLP Native Eurogenes Native Harrappa Native MDLP African Eurogenes African Harrappa African
1 Y Y Y N N N
2 Y Y Y Y Y N
3 N N N Y Y N
4 Y N Y N N N
5 N N N N N N
6 Y Y Y Y N N
7 N N Y N N N
8 Y Y Y Y N Y
9 Y N N Y N N
10 Y N N Y N N
11 Y N Y Y N N
12 Y N Y N N N
13 Y N Y N N N
14 Y Y Y Y N N
15 Y N N N N Y
16 Y Y Y Y N N
17 Y Y Y N N N
18 N N N N N N
19 Y Y Y Y N N
20 Y Y Y Y N N
21 Y N Y N N N
22 N N N Y Y N

From these various tools, it’s obvious that I do have some Native admixture, probably about 1%, and it’s from both parents.  I also have some African, but it looks to be an even smaller proportion that Native American.

Join me for Part 6 of this series, where we look at how to analyze and use this information.


[1] 71.5% western European, 28.4% Northeastern European

[2] Inferred that Asian is actually Native in an American with no history of Asian ancestry.

[3] No category, inferred.

[4] 78.6% Northern European, 1.8% Southern European, 18.7% Nonspecific European

[5] 54.6% Northern European, .3% Southern European, 43% Nonspecific European

[6] 91.7% Northern European, 3% Southern European, 3.3% Nonspecific European

[7] 75.18% West Europe (French and Orcadian), 24.82 Europe (Romanian, Russian, Tuscan and Finnish).  Note that my mother’s results are almost identical except the Finnish is missing from hers.

[8] 43% North Europe and 36% Mediterranean

[9] 80% British, 12% Scandinavian

The Autosomal Me – The Ancestors Speak

This is Part 2 in the series, “The Autosomal Me.”  Part 1 was “The Autosomal Me – UnRaveling Minority Admixture.”

Every Sunday, I write something called a Sunday Story.  I’ve done this for years.  I send them to my kids and I delude myself into thinking they read them.  I’m really writing them for my grandkids someday and hopefully, some as yet unborn descendants I’ll have that will care about finding out about the life and times of their a-few-greats grandmother who lived along with the dinosaurs in the last half of the 1900s and first half of the 2000s.  I know, I’m optimistic.

I decided that perhaps I would share this weeks Sunday story with all of you.  This way, I know that at least someone will read it.  Actually, aside from my husband, it’s my daughter-in-law who comments the most often.  So welcome to my Sunday Story!  You are all honorary cousins!

**********

I know that a great deal of what I do with genetics is lost on my friends and family members.  That’s OK, because it’s very specialized.  However, I wanted to take a little bit of time to share with you an aspect of the genetics I work with that I think is very beautiful in both a literal and a spiritual way.

The point of genetic genealogy, of course, is to learn about our ancestors, who they were and our connection to them.  There are various ways to do this, but most of the time it’s through various matches to other people who share a common ancestor either recently or perhaps further back in time.

Of course, therein lies the rub – how long ago are two people related and who was their common ancestor?  Some people who carry minority ancestry are at a distinct disadvantage, because the testing that provides matches and ethnicity generally relies on amounts in excess of 1%, which equates to about 6 or 7 generations.  While many of us know that we carry minority ancestry, we would be hard pressed to say that our “pure” Native (or other minority) ancestor fell into that 6 or 7 generation bracket.  Six or 7 generations equates to about 150-175 years before our birth, or about 1775-1800 for most of us.  By then, many Native people were already admixed and many already lived outside of a traditional tribal unit.  Some people carry Native heritage from multiple lines, but since it comes from multiple ancestors, it too is often quite fragmented, so it doesn’t really improve the situation much unless some of those fragments happen to fall together to make larger segments.

Therefore, we are looking for very small amounts of admixture that often don’t show on traditional tests, or if they do, it’s in miniscule amounts.

Enter chromosome painting.

Without going in to boring detail, I’ve recently been working with a new methodology of identifying these fragmented and very small segments.  I am using several chromosome painting tools.  I’ll be blogging soon enough about how all of this is done, but I just wanted to share with you a couple of beautiful pieces of DNA, through which our ancestors are speaking, and we can see them, in a manner of speaking.

On the graph below, which is my chromosome painting of one a small part of one of my chromosomes on the top, and my mother’s showing the exact same segment on the bottom, the various types of ethnicity are colored, or painted.  You can see that both of us have a primary ethnicity of North European, shown by the teal.

ancestors speak

The grid shows location 120 on the chromosome.  Think of this number as a house number on a street.  It’s numbered so we can keep track of where we are on the chromosome.  For genealogy purposes, the smallest segment normally considered as relevant is 7 mb or marker segments long.  Each tick mark equals one segment or address, so a segment 7 mb long would be from 120-127 which takes you right over to the legend.  As you can see, the primary ethnicity has no problem reaching way beyond the contiguous 7 threshold, but the minority ethnicity would not be counted because it’s too small.

However, by the very definition of what minority ancestry is, these small segments are not only present, providing critical information, they are essential in our search and very informative.  Let’s see what they are saying to us.

First, let’s talk for a minute about ancestry.  There is no line in the sand very often between populations.  There are generally only degrees of difference.  So in the case of Native American, which is yellow on this chart, we also expect to see it “drift back in time” by being found in conjunction with Siberian (putty), South Asian (red) and East Asian (emerald green).  Native Americans were not dropped from alien spaceships, they evolved over time from these other Asian populations, so we would expect to see some of their genetics in Native American people.

So let’s take a look at what we do actually see in the DNA.

The first brightly colored segment in the top band is mine.  It includes Native American (yellow), South Asian (red), a big chunk of East Asian (emerald Green), a little bit from the Caucus (ginger) which is the Middle East area, and a piece of West African (light green).

There are two messages from the ancestors in this piece of DNA.  First, this segment absolutely, positively does NOT come from mother.  We can see this clearly because she has nothing but North European (teal) in that section of her DNA.  So, this little gem came from Dad.

The second piece of information is that the ancestor who provided this DNA to Dad was very likely admixed, Native and African.

Of course, if you’re thinking ahead at this point, you’ll be asking, “Which one of your Dad’s other relatives has this same segment?” because, yes, that’s exactly how we will tell which of his lines contributed the Native ancestry.  But you’re getting ahead of the story, and well, that is a story for another time.  This story today, is about the direct messages of the ancestors and the beauty of our DNA itself.

Let’s look at the next segment of minority DNA.  It starts about location 123.  Mom’s is much more pronounced than mine and much richer.  This tells us that I didn’t receive much of Mom’s.  Instead I received mostly North European (teal), along with some East Asian (emerald).

Mom has almost a perfect Native segment here.  By perfect, I mean we find a progression from Native back through time through all 4 categories I would expect to find.  I consider this entire segment “Native” because it indicates Native heritage.  You can see the emerald green (East Asian), putty (Siberian), red (South Asian) and yellow (North American Indian and Arctic) nestled together with no other minority ancestry in close proximity.  This means it’s not part of a different kind of Asian segment.  Remember, part of Europe was settled by the Mongol Hordes and the Huns, so we do see Asian and western Asian DNA in Europe, along with DNA from the Caucus, but we don’t see isolated segments like this, with just eastern Asian DNA and Native American.  So this little beauty is the perfect Native indicator, positively, even though it is only about 4 segments long.

Now take a look at my DNA in that same region in the top row.  It’s kind of hard to see the emerald green against the teal, but I only inherited the East Asian (emerald) segments from Mom.  Of note, however, is that I also have an East Asian (green) segment that Mom doesn’t have.  My East Asian starts about 122 where hers doesn’t begin until 123.  So good old Dad contributed a bit here as well.  Again, we know this because Mom only has North European at that segment.

And now of course for the kicker.  Your DNA looks this same way.  How boringly teal it is, or how beautifully rainbow multi-colored depends on how much minority ancestry you have, from how many different lines, and which of your parents you received it from.

I hope you can see why I’m so excited to be developing this new technique to work with highly fragmented DNA to find our ancestors.  They are there, they have a voice, and they are speaking to us.  All we have to do is figure out how to listen.

I am simply in awe of the beauty of this technique, literally as well as figuratively.  While I certainly understand and appreciate logically that matching other people means we’re related, there is something awe-inspiring and tangible about being able to see the painted graphs and view the layers of ancestry nestled together, life forces reaching through time, protecting that DNA with its precious message for us over many generations.  All this time, just waiting for us to be able to understand the most personal message from our ancestors, delivered, from them, in our genes, to each of us.  This is the voice of our ancestors.

Proving Native American Ancestry Using DNA

Every day, I receive e-mails very similar to this one.

“My family has always said that we were part Native American.  I want to prove this so that I can receive help with money for college.”

The reasons vary, and not everyone wants to prove their heritage in order to qualify for some type of assistance.  Some want to find their tribe and join to reclaim their lost heritage.  Some want to honor their persecuted and hidden ancestors, undoing some of the wickedness of the past, and some simply seek the truth.  Regardless of why, they are all searching for information lost to them.

I’d like to talk about three topics in proving Native Ancestry.  First, I’d like to do some myth-busting.  Second, I’d like to talk a little about conventional research and third, I’d like to discuss what DNA can, and can’t, do for you.

As you read this blog, please click on the links.  I’m not going to repeat something I’ve already covered elsewhere.

Myth-Busting

Myth 1 – Free College

There is no free college for Native Americans.  There are sometimes scholarships and grants available, mostly by the individual tribes themselves, for their official members.

Myth 2 – Joining a Tribe

Many people think that if they can only figure out which tribe their ancestor descends from, they can join.  This is untrue.  Each tribe is a sovereign nation, and they get to determine their criteria for membership.  Most tribes require a specific percentage of Native “blood,” called blood quantum, in addition to being able to document which tribal member you descend from.  Some tribes require as much as 25% Native heritage, and most require at least 1/16th Native heritage, which is one great-great grandparent.  If you don’t know who in your family was a tribal member it’s unlikely that you would be able to meet the blood quantum requirement.

Myth 3 – DNA Testing Will Reveal my Tribe

Generally, DNA testing does not provide us with the information needed to determine a tribe, although it can clearly tell, using y-line or mitochondrial DNA testing, whether your direct paternal or maternal line was or was not Native.  Sometimes you will be able to infer a tribe based on your matches and their documented history, but the definition of tribes, their names and locations have changed over time.  We are working on improving this ability, but the science simply isn’t there yet and the number of Native people who have tested remains small.

Simply put, most federally recognized tribes aren’t interested in more tribal members.  More members mean a smaller piece of the pie for existing members.  The pot of resources, whatever resources you’re discussing, is only so large and it must be shared by all tribal members.

What is a Tribe?

Tribes in the US fall into two categories.  When most people think about tribes they are talking about federally recognized tribes.  Those are tribes that have some continuity with the past, such as they have always been a tribe, or they still retain tribal lands, etc., and the federal government recognizes them as such.  These are the tribes that qualify for government programs and many own casinos.  As you might imagine, with the influx of casino money, the desire to join a tribe has increased significantly.

The second category is non-federally recognized tribes.  Some are state recognized and others, not at all.  State recognition does not in any way guarantee federal or state funding and there are no universal standards for state recognition.  In other words, your mileage may vary, widely.  Non-federally recognized tribes are often run as non-profit entities.  In many cases, these tribes will help people research and document their genealogy and may be more open to tribal membership for those connecting with their Native heritage.

Be aware that some “tribes” that fall into the non-federally recognized category may be less than ethical.  Some tend to come and go.  In one case, to apply to join, one had to provide information such as social security numbers and a complete family pedigree including your children. In some cases, membership is very expensive, hundreds of dollars, but is available to almost anyone for the right price.  When evaluating tribes that are not federally recognized, if something sounds fishy, it probably is.  Caution is the watchword.

In general, the federally recognized tribes do not feel kindly towards the non-federally recognized tribes and view them as “fake,” interlopers trying to get part of that pie.  Of course, the non-federally recognized tribes feel differently; that they are reclaiming their heritage denied them.  Native American politics is nothing new and is fraught with landmines.

No federally recognized tribes, to the best of my knowledge, have considered DNA testing as a criteria for membership.  No federally recognized tribe has endorsed or participated in DNA testing that I’m aware of.  This does not mean that individuals have not privately tested.

Traditional Genealogy Research

Given the criteria for membership in federally recognized tribes, traditional genealogy is the only way to obtain the type of information required.  If your family history includes a tribal name, and east of the Mississippi, that most often is Cherokee, contact the various Cherokee tribes to inquire about membership criteria.  If the membership criteria is 25% blood quantum, and you must live on the reservation, you’re toast…..no need to continue that line of research if your goal is to join the tribe.

If your goal is simply to find your Native ancestor, that’s another matter entirely.  Begin by using the traditional research tools.

First, look at where your ancestor or that family line was located.  Did they migrate from elsewhere?  How were they listed in the census?  Was someone listed as other than white, indicating mixed race?  Check the records where they lived, tax records and others to see if there is any indication of non-European heritage.  Remember that your non-white ancestor would have retained their “darker” countenance for at least 2 generations after being admixed.  Many Native people were admixed very early.

So first, check the normal genealogy records and look for hints and traces of non-European ancestry.

Second, turn to Native resources that might reflect the Native people in the areas where your family is or was found.  The Access Genealogy site is absolutely wonderful and has an amazingly complete set of records including searchable tribal rolls.  In addition, I add information almost daily to the Native Heritage Project at www.nativeheritageproject.com, which is searchable.  There are many more resources including several collections at Ancestry.com.

Hopefully, these records will help narrow your focus in your family tree to a particular person or two, not just a general branch.  Family rumors like “Grandma was a Cherokee Princess” are particularly unuseful.  What they more likely mean is that there was indeed some Native ancestry someplace in her line.  Cherokee has become a generic word like Kleenex.  It may also have meant that Indian heritage was claimed to cover much less desirable African heritage.  Institutionalized discrimination existed against any people of color in pre-1967 America, but Indians generally retained some rights that people of African ancestry did not.  Laws varied by state and time.  Take a look at my blog about Anti-Miscegenation Laws and when they were overturned.

Now, let’s look at DNA testing to see what it can do for you.

DNA Testing to Prove Native Ancestry

There are three types of DNA testing that you can do to prove Native Ancestry.  Two are very focused on specific family lines, and one is much more general.

  • Mitochondrial for your direct maternal line.
  • Y-line for your direct paternal line – if you are a male. Sorry ladies.
  • Autosomal to test your ethnic mix and one direct marker test for Native ancestors.

On a pedigree chart, these genealogical lines look like this:

adopted pedigree

You can see the path that the blue Y chromosome takes down the paternal line to the brother and the path the red mitochondrial DNA takes down the maternal line to both the brother and the sister.  Autosomal tests the DNA of all of the 16 ancestral lines shown here, but in a different sort of way.

Let’s look at each type of testing separately.

Y-Line DNA – For Paternal Line Testing for Males

The Y-line testing tests the Y chromosome which is passed intact from father to son with no DNA from the mother. This is the blue square on the pedigree chart. In this way, it remains the same in each generation, allowing us to compare it to others with a similar surname to see if we are from the same “Smith” family, for example, or to others with different surnames, in the case of adoption or Native heritage.  Native American genetics isn’t terribly different than adoptees in this situation, because different English surnames were adopted by various family members, into the late 1800s and sometimes into the early 1900s, depending on the location.

Y-line DNA can tell you whether or not you descend from a common male genealogically when compared to another testing participant.  Small mutations do take place and accumulate over time, and we depend on those so that we don’t all “look alike” genetically.  It can also tell you by identifying your deep ancestral clan, called a haplogroup, whether or not you descend from early Native Americans who were here before contact with Europeans.  For that matter, it can also tell you if you descend from those of African, European or Asian ancestry.

Scientists know today that there are only two primary haplogroups indicating deep ancestry that are found among Native American males who were here prior to contact with Indo-Europeans, and those haplogroups are C and Q3.  It is not accurate to say that all C and Q3 individuals exist only in the American Native population, but the American Native population is part of the larger group worldwide that comprises C and Q3.  We find some haplogroup C and Q3 in Europe but none in African populations, although we do learn more every single day in this infant science.

This sometimes becomes confusing, because the single most common male haplogroup among current Cherokee tribal members who have tested is R1b.  How can this be, you ask?  Clearly, one of three possibilities exists:

  1. The Cherokee (or those tribes who were assimilated into the Cherokee) adopted a European male into the tribe or a European male fathered a child that was subsequently raised as Cherokee.
  2. The R1b ancestor was not adopted into the tribe, maintained their European/American identity but married a Cherokee individual woman and their descendants are recognized as Cherokee today.
  3. There is some level of R1b admixture in the Native population that preceded contact with Europeans that we have not yet identified.

Because of the unique haplogroups for Native Americans who preceded European contact, Y-line is the only way to positively confirm that a specific line is or is not of Native American descent.  This obviously applies to all of the individuals in the pedigree chart who directly descend from the oldest known ancestor in this paternal line.

Y-line testing does not indicate anything about the contributions of the other ancestors in this family tree.  In other words, you could be 3/4th Native, with only the direct paternal line being European, and this test would tell you nothing at all about those other three Native lines.

When ordering DNA tests at Family Tree DNA, which is where I recommend that you test, everyone is encouraged to join projects.  There are several types of projects, but to begin with, you should join your surname project.  Not only does this group you with others whom you are likely to match, but this also assures that you receive the project based discounts.  I blogged about how to find and join relevant projects.

You can test at 12, 25, 37, 67 or 111 marker “locations” on the Y chromosome. I generally recommend 37 or 67 to begin which gives you enough to work with but isn’t terribly expensive.  At Family Tree DNA, you can always upgrade later, but it’s less expensive in total to test more initially.  Right now, 37 markers cost $119 and 67 markers are $199, but a sale is currently underway.

After your results are returned, you can then upload or manually enter your results at www.ysearch.org (upload directly from your Family Tree DNA matches page), www.smgf.org and www.ancestry.com. You can then check for matches at these sites as well. Not all of these other sites test as many markers as Family Tree DNA, but the comparison is free and useful.  Even if your haplogroup is not Native American, you may match others with a similar heritage story for their paternal line.

Family Tree DNA also provides significant tools for Y-line DNA as well as Mitochondrial DNA. You can see both Family Tree and Ancestry Y-line results compared on this blog, which shows you how to use both companies’ tools. At Family Tree DNA, for all their tests, you are provided with the e-mail addresses of your matches. At Ancestry and 23andMe, you contact matches through their internal message system. My experience has been that direct e-mails have a better response rate.

The person looking for Native Heritage will be most interested in their haplogroup designation.  If your haplogroup is either Q or C, you’ll want to join your haplogroup project, minimally, as well as other relevant Native American projects, and work with the administrators for further testing.  Remember, neither haplogroup Q nor C are always Native, so deeper testing may be in order.  You may also match others with confirmed Native heritage, including a tribe.

If the haplogroup is not Native, then you’ll have to take a look at possible reasons why.

One can never interpret non-Native haplogroup results of any one line to answer the much broader questions of, “do I have Native heritage”, “how much” and “where?”  What you can do at that point is to continue to test other lines in order to discover the identity of your Native American ancestor.

Obviously, the Y-line test is only for males. Ladies, I feel your pain. However, these next tests are for both sexes.

Mitochondrial DNA – For Direct Maternal Line Testing for Both Sexes

Mitochondrial DNA is inherited by all children from their mother only, with no admixture from the father. Women obtain their mitochondrial DNA from their mother, who got it from their mother, on up the line into infinity. This is the red circle on the right hand side of the pedigree chart. Like Y-line DNA, mitochondrial DNA is passed intact from one generation to the next, except for an occasional mutation that allows us to identify family members and family lines.

Unfortunately, it does not follow any surname. In fact the surname changes with every generation when women marry. This makes it more challenging to work with genealogically, but certainly not impossible. Because of the surname changes in every generation, there are no “surname” projects for mitochondrial DNA, per se, but there are other types of projects.  For example, the Mothers of Acadia project is using mitochondrial DNA to reconstruct the Acadian families including those of Native American heritage.

There are three levels of testing you can take for mitochondrial DNA at Family Tree DNA, which is where I recommend that you test. The mtDNA, the mtDNAPlus and the Full Sequence. The mtDNA test is a starter test that will provide you with a base haplogroup, but will leave people searching for Native ancestry needing a more complete test for full haplogroup identification confirming Native ancestry. I strongly recommend the full sequence test, but if the budget just won’t allow that, then the mtDNAPlus will do until you can afford to upgrade. Family Tree DNA is the only major lab that tests the full sequence region, plus, they have the largest matching data base in the industry.

To put this in perspective for you, the mtDNA and the mtDNAPlus tests both test about 10% of your mitochondrial DNA and the full sequence test tests all of your 16,569 mitochondrial locations. You can then compare them with other people who have taken any of those 3 tests.  Pricing for the mtDNAPlus is currently $139 and the full sequence is $199.

MtDNA testing is not as popular as Y-line testing because it’s more difficult to use genealogically as last names change every generation.  When you look at your matches, you have no idea whatsoever if you might be related to these people in a genealogically relevant time frame by looking at their last names.  Those who have invested the effort to collaboratively work on their mtDNA matches, assuming a full sequence match and a shared geographical history as well, have been pleasantly surprised by what they’ve found.

A haplogroup assigning deep ancestry is provided through mitochondrial testing, so like the Y-line, depending on the haplogroup assigned, you will know if your ancestors were here before European contact.  Maternal haplogroups that indicate Native heritage include A, B, C, D and X.  Like Y-line DNA testing, none of these haplogroups are exclusive to Native Americans, so a full sequence level test will be required to confirm a Native American subgroup.

After you receive your results, you can enter the mtDNA and mtDNAPlus portions into public data bases. There are no public data bases for the full sequence segment because there may be medical implications in some of those mutations, so they are not displayed publicly although they are compared privately within the Family Tree DNA data base. You will want to enter your data and check for matches at www.mitosearch.org (upload directly from your matches page at Family Tree DNA), www.smgf.org and www.ancestry.com, although beware of Ancestry’s accuracy issues.

Testing the Y-line and mitochondrial DNA individually gives us a great deal of very specific information about 2 lines in your pedigree chart.  The best method of identifying Native American ancestors is indeed to test as many lines on your DNA pedigree chart using this methodology as possible.  Let’s take a minute to look at how to create a DNA pedigree chart.

DNA Pedigree Chart

If your Y-line and mitochondrial DNA have proven not to be Native, that doesn’t mean that the rest of your lines aren’t.

Let’s take a look at how to create a DNA pedigree chart so that you can focus your Y-line and mitochondrial DNA testing for other lines.

The purpose of a DNA pedigree chart is to provide guidance in terms of inheritance and also to provide a way of documenting your progress.  My chart is shown below, as an example.

DNA Pedigree

You can see the Y-line of my father and the mitochondrial line of my mother, on both ends of the pedigree chart.  At the top of each line, I have recorded the haplogroup information for each family.  Color coding each line helps in tracking descendants who would carry the DNA of the ancestor of that line.  For example, my mother’s father’s mother’s line is the yellow Miller line.  I need to find a daughter of my grandfather’s sisters, or their children, or their daughter’s children, to test for that mitochondrial DNA line.  Which reminds me, I need to call my cousin.  Family reunions, picnics and holidays are great for this type of thing.  Sadly, so are funerals.

I blogged about how to put together your own DNA pedigree chart.  You can get a free copy and instructions on my website too, at www.dnaexplain.com under the Publications tab.  If you’re Native and adopted, then refer to the adoptee blog instead, or in addition.

But sometimes, we can’t find the right people in order to test, so we move to autosomal testing to help us fill in the blanks.

Autosomal Testing – For Both Sexes – The Rest of the Story 

Autosomal DNA testing tests all of your 23 pairs of chromosomes that you inherit from both of your parents. You get half of each chromosome from each parent. You can see this pattern on the pedigree chart, represented by all of the 16 genealogical lines. Therefore, as you move up that tree, you should have inherited about 25% of your DNA from each grandparent, about 12.5% of your DNA from each great-grandparent, as have all of their other great-grandchildren.

Therefore beginning with your parents, you carry the following approximate amount of DNA from each of these ancestors. I say approximate, because while you do receive exactly 50% of your DNA from each parent, there is no guarantee that their parents DNA was admixed in your parents such that you receive exactly 25% from each grandparent, but it’s close.  You can see the percentages in the chart below.

Generation Relationship % of Their DNA You Carry

1

Parents

50

2

Grandparents

25

3

Great-grandparents

12.5

4

GG-grandparents

6.25

5

GGG-grandparents

3.125

6

GGGG-grandparents

1.56

7

GGGGG-Grandparents

0.78

Given this chart, if the Native percentage is back beyond 6 generations and drops below the 1% threshold, it’s extremely difficult to discern today.

Autosomal testing will pick up relationships reliably back to about the 6th or 7th generations, and sporadically beyond that.

Autosomal testing provides you minimally with two things.  First, with a list of “cousin matches” by percentage and estimated relationship.  Second, percentages of ethnicity.  It’s this second part that’s most important for the person seeking to prove Native American heritage.

Percentages of Ethnicity

As the field of genetic genealogy has moved forward, research has begun to indicate that certain autosomal markers are found in higher or lower frequencies in different ethnic populations.

For example, if someone has the Duffy Null allele, or genetic marker, we know they positively have African admixture.  We don’t know how much African admixture, or from which line, or when that individual with African admixture entered their family tree, but we know for sure they existed.

Attempting to determine the population frequency of varying markers and what that means relative to other populations is the key to this analysis.  Few markers are simply present or absent in populations, but are found in varying frequencies.  Some populations are widely studied in the research literature, and others are virtually untouched.  Thousands have only been recently discovered as part of the National Geographic, Genographic project.

The process of compiling this information in a meaningful manner so that it can be analyzed is a formidable task, as the information is often found in nearly inaccessible academic and forensic research publications.  It’s difficult to determine sometimes if the DNA analysis of 29 individuals in a small village in northern Italy is, for example, representative of that village as a whole, of northern Italy, or more broadly for all of Italy.  Is it representative of Italy today or Italy historically?  These and other similar questions have to be answered fully before the data from autosomal testing can be useful and reliable.

Having said this, the recent release of the National Geographic, Genographic Project version 2.0 holds great promise.  It’s one of 4 autosomal tests on the market today that provide next-generation chip based wide spectrum testing which replaces the older CODIS type testing.   The difference between the old and new technology is using 15 or 20 markers versus a half a million or so.  They aren’t even in the same ballpark.  If you want to see a comparison of the older type tests, read my paper titled Revealing American Indian and Minority Heritage Using Y-Line, Mitochondrial, Autosomal and X Chromosome Testing Data Combined with Pedigree Analysis.

Let’s take a look at all 4 of the contemporary autosomal tests and what they have to offer.

Genographic 2.0

Of the 4 tests, the Geno 2.0 is the newest and appears to reach back the deepest in time, meaning it may well be picking up anthropological results, not just genealogical results.  We don’t know exactly how the analysis is done, but we do know, in general, that if you evaluate segments, you will get results closer in time than if you evaluate individual ancestry informative markers (AIMS).

You can take a look at the results of a man with Native ancestry on both his paternal and maternal sides.  You can also take a look at the reference populations used by National Geographic in this overview of their test results.

If you want to order this test visit www.genographic.com.  The price is $199.  You also receive your Y-line and mtDNA haplogroups, but no marker values for comparison to others. However, the Y haplogroup testing is the most advanced in the world.  You can see why in the Geno 2.0 announcement here.

I have found the Geno 2.0 test to be somewhat more sensitive autosomally than others, but it’s still very new and I have not yet been able to do a complete comparison.  Results have only been coming back for a couple of weeks.

Family Tree DNA

Family Tree DNA sells the Family Finder test. Right now it is priced at $199 or bundled with attractive pricing with either the Y-line or mitochondrial DNA tests. I often like to use this tool in conjunction with the Y-line and mitochondrial DNA tests to see, if you match someone closely, whether you are actually related to them in a recent timeframe or if it is further back. Family Tree DNA is the only one of the autosomal testing companies that has the ability to do this type of advanced comparison.  Compared to 23andMe and Geno 2.0, they are the only ones to offer traditional Y-line and mitochondrial DNA testing which provides individual marker results and matches.

In addition to a list of autosomal matches, you will receive your breakdown of ethnicity, by percent.  The results below are for the same man with Native ancestry whose Geno 2.0 results are shown in the Geno 2.0 – First Peek blog.

native pop finder

You can read more about the Family Tree DNA autosomal product on their FAQ.

23andMe

Another company that sells autosomal testing is www.23andme.com. In addition to a list of cousins, you also receive admixture percentages, and their specialty, health traits.  You also receive a paternal and maternal haplogroup, but with no markers for personal comparison.  These Y-line and mitochondrial results are not as accurate at the Geno 2.0 nor the Family Tree DNA Y-line and mitochondrial DNA full sequence tests.

Be aware that while people who test at Family Tree DNA are interested in genealogy, the typical person at 23andMe tested for the health portion, not the genealogy portion, and may not answer contact requests or may know very little about their family history.

Right now, their test is $99, and you can download your results and upload them to Family Tree DNA for an additional $89, making the total price similar to the Family Tree DNA test. However, you need to be somewhat technically savvy to complete the download/upload process.

23andMe recently released a new version of their software which added quite a bit of resolution after years of being woefully behind.  Native American wasn’t even a category previously.  You can take a look at the new format here.

Ancestry

Ancestry.com recently introduced an autosomal test.  You receive matches and ethnicity percentages.  However, their ethnicity percentages have significant issues and I would not recommend them at this time.  Their cousin matches come with no analysis tools.  So for now, just skip Ancestry and concentrate on the other resources.

One Last Autosomal Test

One marker value in particular, known as D9S919 is present in about 30% of the Native people.  The value of 9 at this marker is not known to be present in any other ethnic group, so this mutation occurred after the Native people migrated across Beringia into the Americas, but long enough ago to be present in many descendants.  You can test this marker individually at Family Tree DNA, which is the only lab that offers this test.  If you have the value of 9 at this marker, it confirms Native heritage, but if you don’t carry 9, it does NOT disprove Native heritage.  After all, many Native people don’t carry it.

To order this test, for existing Family Tree DNA clients, click on the “Order Upgrade” orange button on the right hand side of your personal page, then on “Advanced Test”, then enter “autosomal” in the drop down box, then you will see the list below. D9S919 is the last one and it costs $15.  There may be a $10 one time transfer fee as well if your DNA sample is not in the Houston lab.

native d9s919 order

Swimming in Many Pools

As you can see there are lots of tools available to you that can be used individually or in conjunction with each other.  Like anything else, the more work and effort you are willing to devote to the search, the more likely you are to be successful.

Most people test their Y-line and mitochondrial DNA, not just for Native ancestry, but to learn more about the lines they can test for themselves without reaching out to other family members.

Use your DNA pedigree chart to plan who to ask in your extended family to test for which lines.

Plan to test with multiple autosomal testing companies.  Autosomal testing in particular is still in its infancy. I like to use the results of multiple companies, especially when you are dealing with small amounts of admixture.  They use different markers, combinations, analysis tools and reference populations, so you can expect slightly different results.  One company may pick up slight minority admixture while another may not.  This has happened repeatedly with both my Native and African minority admixture.

GedMatch

After you obtain your results from either Family Tree DNA or 23andMe, you’ll want to download your raw data results and then upload the file to www.gedmatch.com. This is a privately run “donation” site, not associated with any of the testing companies, meaning there is no subscription or fee to use the tools, but they do appreciate and are funded by donations.

After uploading your results you can utilize several admixture tools to compare and contrast your results.

Getting Help

If you’re struggling with working through your family possibilities for who to test, I do offer a DNA Test Plan service.

If you would like a Personalized DNA Report for Y-line or mitochondrial results, those are available as well.

If you have what amounts to a quick question that I can answer in less than an hour, including prep, I offer the Quick Consult service.

For more extensive consulting, contact me.  You can see my services here.

In Summary

Finding our Native ancestors is a way to pay homage to their lives and to the culture that was stripped from their descendants, ironically, by using their own DNA that has been gifted from them to us.  Native people, after contact with Europeans were marginalized, and that’s the best that can be said.  Many were killed, either intentionally or by European diseases, or enslaved.  The results are that Native people left few if any individual records and those that might be available often can’t be identified or linked to them personally.  For those who cannot unearth their Native ancestry using conventional genealogical means, genetic testing is the last hope left.  Fortunately, the tools and our knowledge improve every day.  We’re making great strides with what we can do, enlarging what was a pinhole into a keyhole, allowing us to peer into the past.  So, click your heels, order your tests and let’s see where your DNA takes you.

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New Worldview at 23andMe

23andMe released a new version of their Ancestry Composition – and guess what – my Native Ancestry is shown for the first time.  Yahoo!  It was previously shown at 23andMe as Asian, and the chromosomal locations have changed somewhat as well.

23andMe has greatly improved their product offering, moving from a significantly outdated 3 step ethnicity approach, European, African and Asian, to a multi-tiered, regional platform.

Let’s take a look at what we have today.

Here’s me in my new worldview at 23andMe under the Ancestry Composition tab.  The regions where I have ancestry are brightly colored.

rje world 23andme

Looking at my ethnic breakdown, shown on the right on my page, but shown below here, you can see that I’m 99.4% European, 0.5% Native American and 0.1% unassigned.

rje world 23andme 2

The worldwide breakdown into regions is quite interesting as well.

rjeregion23andme

By highlighting any region item, above, it shows you the corresponding region on your worldview, below.  Pretty cool.

rjeregion23andme2

They’ve updated the Chromosome View as well.  Previously, my Chromosome View looked like this:

rjechromosome view old 23andme

Now, it looks like this, reflecting the new regional ethnicity information.

rjechromosome view 23andme new

Another setting that you can manipulate is found in the drop down box in the upper right corner. It has 3 options, standard estimate, conservative estimate and speculative.  In my case, this changes the results very little, the Native moving around a bit, but the regions within Europe do change.  Be sure to take a look at all of these.  The drop down box is easy to miss.

One thing I do really like about this new rollout is that the X chromosome is included.  You can see it at the bottom of the list.  This is new and has been promised for a long time.

One feature that I would very much like to see is the ability to determine which, if any, of my matches actually match me on the segments determined to be Native American.  I realize that not everyone at 23andMe is interested in genealogy, but if you could contact them and say, “Hey, we match on my Native segment – let’s see if we can find some common ancestry,” it might generate enough interest to garner a response.  I would like to find a way to use these results more effectively.  I think there is a lot of unrecognized potential just waiting to be harvested.

All in all, a significant step forward for 23andMe.  For me, not a lot of new information.  I discovered that I have some Native genes on chromosome 2 in addition to chromosome 1.  My African ancestry picked up elsewhere is missing here.  Fortunately, my Native American heritage is now classified as such, and not Asian.  However, on the speculative view, I still have a smidgen of Asian, likely from the Native American heritage.  I really like the 3 choices in how to display results, conservative, standard and speculative.

As soon as the National Geographic Geno 2.0 ethnicity information is available, I’ll be comparing all the results from the various companies against my known genealogical heritage and taking a look at all of those results combined.  Stay tuned….things are really getting interesting!

Family Tree DNA Conference 2012 – Nits and Grits

First things first!  I want to thank Max and Bennett for graciously hosting the 8th Annual Genetic Genealogy Conference in Houston, Texas!  This is actually the 9th year, but a pesky hurricane interfered one year.  Max and Bennett are very generous with their time and resources and heavily subsidize this conference for us.  We’re registering in the photo above.

Georgia Kinney Bopp said it best.  At some point during this amazing conference, someone tweeted an earlier quote from a conversation between Ann Turner and Georgia:

“it’s hard to realize you’re living history while it happens…”

This was ever so true this weekend.  Even my husband (who is not genetic genealogy crazy) realized this.  I’m not sure everyone at the conference did, or realized the magnitude of what they were hearing, as we did have a lot of newbies.  Newbies are a good thing.  It means our obsessive hobby and this industry have staying power and there will be people to pass the torch to someday.

I’ve already covered the Native American focus meeting in an earlier blog.

For those of you who want the nitty gritty play by play as it happened at the conference, go to www.twitter.com and search for hashtag #ftdna2012.  If you want some help with Twitter, I blogged about that too.  Twitter is far from perfect, but it is near-realtime as things are happening.

As always, Family Tree DNA hosts a reception on Friday evening.  This helps break the ice and allows people to put faces with names.  So many of us “know” each other by our e-mail name and online presence alone.

We had a special guest this year too, Nina, a little puppy who was rescued by Rebekah Canada just a few days before the conference.  Nina behaved amazingly well and many of us enjoyed her company. 

Bennett opened the conference this year, and in the Clint Eastwood political tradition, spoke to his companion, the chair named Max.  The real Max, it turns out, was losing his voice, but that didn’t prevent him from chatting with us and answering questions from time to time.

While Bennett was very low key with this announcement, it was monumental.  He indicated that the parent company of Family Tree DNA has reorganized a bit.  It has changed its name to Gene by Gene and now has 4 divisions.  You can check this out at www.genebygene.com.  This isn’t the monumental part.

The new division, DNADTC’s new products are the amazing parts.  Through this new division, they are the first commercial company to offer a full genome sequence test.  The price, only $5495.  For somewhat less, $695, they are offering the exome, which are your 20,000 genes.  Whoever though it would be a genetic genealogy company who would bring this to the public.  Keep in mind that the human genome was only fully sequenced in 2003 at a cost of 3 billion dollars.

The amazing part is that a full genome sequence cost about 3 million in 2007 and the price will continue to fall.  While consumers will be able to order this, if they want, it comes with no tools, as it is focused at the research community who would be expected to have their own analytical tools.  However, genetic genealogists being who and what they are, I don’t expect the research market will outweigh the consumer market for long, especially when the price threshold reaches about $1000.

Bennett also said that he expects that National Geographic will, in 2013 sometime, decide to allow upgrades from Family Tree DNA clients for the Geno 2.0 product.  This will allow those people who cannot obtain a new sample to participate as well.  However, an unopened vial will be required.  No promises as to when, and the decision is not his to make.

The first session was Spencer Wells via Skype from Italy.  Spencer has just presented at two conferences within the week, one in San Francisco and one in Florence, Italy.  Fortunately, he was able to work us into his schedule and he didn’t even sound tired.

Of course, his topic was the Geno 2.0 test which is, of course, run on the new GenoChip.  The first results are in the final stages of testing, so we should see them shortly.  Sometime between the 19th and the end of the month.

This product comes with all new migration maps.  He showed one briefly, and I noticed that one of the two Native Y-lines are now showing different routes than before.  One across Siberia, which hasn’t changed, and one up the pacific rim.  Hmmm, can’t wait for that paper.

The new maps all include heat maps which show frequency by color.  The map below is a haplogroup Q heat map, but it is NOT from the Geno project.  I’m only using it as an example.

Spencer indicated that the sales of the 2.0 product rival those of the 1.0 product and that they have sold substantially more than 10K and substantially less than 100K kits so far.  In total, they have sold more than 470,000 kits in over 130 countries.  And that’s just the public participation part, not the indigenous samples.  They have collected over 75,000 indigenous samples from more than 100 populations resulting in 36 publications to date with another half dozen submitted but not yet accepted.  Academic publication is a very long process.

Nat Geo has given 62 legacy grants to indigenous communities that have participated totaling more than 1.7 million dollars.  That money comes in part from the public participation kits, meaning Geno 1.0 and now 2.0.

Geno 2.0 continues to be a partnership between National Geographic and Family Tree DNAFamily Tree DNA is running all of their samples in the expanded Houston lab.  Also added to the team is Dr. Eran Elhaik at Johns Hopkins University who has developed a new tool, AIMSFINDER, that locates never before identified Ancestral Informative Markers to identify population specific markers.  This is extremely important because it allows us to read our DNA and determine if we carry the markers reflective of any specific population.  Well, we don’t do the reading, they do with their sophisticated software.  But we are the recipients with the new deep ancestral ethnicity results which are more focused on anthropology than genealogy.  Spencer says that if you have 2% or more Native American, they can see it.  They have used results from both public and private repositories in developing these tools.

This type of processing power combined with a new protocol that tests all SNPS in a sequence, not just selected ones, promises to expand the tree exponentially and soon. It has already been expanded 7 fold from 863 branches of the Y tree to 6153 and more have already been discovered that are not on the GenoChip, but will be in the next version.

The National Geographic project will also be reaching out to administrators and groups who may have access to populations of interest.  For example, an ex-pat group in an American city.  Keep this in mind as you think of projects.

Another piece of this pie is a new educational initiative in schools called Threads.

This isn’t all, by any means, on this topic, I really do encourage you to go and use Twitter hashtag #ftdna2012.  Several of us were tweeting and the info was coming so fast and furious that no one could possibly get it all.

The future with Nat Geo looks exceedingly bright.  We have gone from the Barney Rubble age to the modern era and now there is promise for a rosy and as yet undiscovered future.

Judy Russell was next.  I have to tell you, when I saw where they positioned her, I was NOT envious.  I mean, who wants to follow Spencer Wells, even if he’s not there in person.  Well, if anyone was up to this, it certainly was Judy.  For those who don’t know, she blogs as The Legal Genealogist.

Judy is one of us.  That means she actually understands our industry, what drives genealogists and why.  In addition to being a lawyer, she is a certified genealogist and a genetic genealogy crazy too.  Maybe I shouldn’t call a lawyer crazy….well…it was meant as a compliment:)

Judy has the perspective to help us, not just criticize us remotely.  She reviewed several areas where we might make mistakes.  After all, we’re all volunteers coming from quite varied backgrounds.  She suggests that we all put some form of disclosure on our projects explaining what participants can expect in terms of use.  She used the Core Melungeon project as a good example, along with the Fox project.

“The goal of this project is to use DNA to better understand the origins of the Melungeon people, and this will be done by comparing the DNA with other project members, those outside of projects, and will incorporate relevant genealogical and historical research. All participants will be included in the ongoing studies and by joining the project, you are giving consent for your information to be anonymously included in ongoing genetic genealogy research. Your personal identity will not be revealed, but your results will be used to better understand the Melungeons as a people and their ancestors.”

From the Fox project:

“The exact function of these STR markers is not yet known and they have no known medical function but recent research shows they have some sort of regulatory function on the genes. While there is no medical information in these numbers, the absence of a certain few markers near a fertility gene could indicate sterility – something that would certainly already be known.

The results do provide a partial means of personal identification and, for this reason, our haplotype tables list only the FTDNA kit number and the most distant known male line ancestor. Within the project, however, the administrators feel free to disclose identities, particularly when a close match occurs.”

Judy’s stressed that we not tell people that there is no medical information revealed.  Partially, because we’ve discovered in rare cases that’s not true, and partially because we can’t see into the future.

Judy talked about regulation and that while we fear what it might intentionally or inadvertently do to genetic genealogy, it’s important to have regulations to get rid of the snake oil salesman, and yes, there are a couple in genetic genealogy.  They give us all a black eye and a bad name when people discover they’ve been hoodwinked. However, without regulation of some sort, we have no legal tools to deal with them.

Regulation certainly seems to be a double-edged sword.

I hope that Judy writes in her blog about what she covered in her session, because I think her message is important to all administrators and participants alike.  And just to be clear, the sky is not falling and Judy is not Chicken Little.  In fact, Judy is the most interesting attorney I have ever heard speak, and amazingly reasonable too.  She actually makes you WANT to listen, so if you ever get the chance to see one of her webcasts or attend one of her sessions, take the opportunity.

Following the break, breakout sessions began.  CeCe Moore ran one about “Family Finder,” Elise Friedman about “Group Administration” and Thomas Krahn provided the “Walk the Y Update.”  Bennett called this the propeller head session.  Harumph Bennett.  Guess you know which one I attended.  All sessions were offered a second time on Sunday.

Thomas said that they have once again upgraded their equipment, doubling their capacity again.  This gives 4 times the coverage of the original Walk the Y, covering more than 5 million bases.  To date, they have run 494 pre-qualified participants and of those, 198 did not find a new SNP.

There are changes coming in how the palindromic region is scored which will change the matches shown.  Palindromic mismatches will now be scored as one mutation event, not multiples.  Microalleles will able be reported in the next rollout version, expected probably in January.  The problem with microalleles is not the display, but the matching routine.

Of importance, there has not been an individual WTY tested from haplogroups B, M, D or S, and we need one.  So if you know of anyone, please contact Thomas.

Thomas has put his Powerpoint presentation online at  http://www.dna-fingerprint.com/static/FTDNA-Conference-2012-WalkThroughY.pdf

The next session by Dr. Tyrone Bowes was “Pinpointing a Geographical Location Using Reoccurring Surnames Matches.”  For those of us without a genetic homeland, this is powerful medicine.  Dr. Bowes has done us the huge favor of creating a website to tell us exactly how to do this.  http://www.irishorigenes.com/

He uses surnames, clan maps, matches, history and census records to reveal surname clusters.  One tidbit he mentioned is that if you don’t know the family ethnicity, look at the 1911 census records and their religion will often tell you.  Hmm, never thought of that, especially since our American ancestors left the homeland long ago.  But those remaining in the homeland are very unlikely to change, at least not in masse.  I’m glad he gave this presentation, or I would never have found his webpage and I can’t wait to apply these tools to some of my sticky-wickets.

This ended Saturday’s sessions, but at the end of every day, written questions are submitted for that day’s presenters or for Family Tree DNA.

Bennett indicated that another 3000 or 4000 SNPs will be added to the Family Finder calculations and a new version based on reference samples from multiple sources will be released in January.

Bennett also said that if and when Ancestry does provide the raw downloadable data to their clients, they will provide a tool to upload so that you can compare 23andMe and Ancestry both with your Family Finder matches.

Saturday evening is the ISOGG reception, also called the ISOGG party.  Everyone contributes for the room and food, and a jolly good time is had by all.  There is just nothing to compare with face to face communications.

For me, and for a newly found cousin, this was an amazing event.  A person named Z. B. Stroud left me a message that she was looking for me.  When I found her, along with her friend and cousin Revis, she tells me that she matches me autosomally, at 23andMe, and that she had sent me a sharing request that I had ignored.  I am very bad about that, because unless someone says they are related, I presume they aren’t and I don’t like to clutter up my list with non-related people.  It makes comparisons difficult.  My bad.  In fact, I’m going right now to approve that sharing request!!!

I will blog about this in the future, but without spilling too many beans….we had a wonderful impromptu family reunion.  We think our common ancestor is from the Halifax and Pittsylvania County region of Virginia, but of course, it will take some work to figure this out.

I’m also cousins with Revis Leonard (second from left).  We’ve known that for a long time, but Z.B. whose first name is Brisjon (second from right) is new to genealogy, DNA and cousin matching. I’m on the right above.  The Stroud project administrator, Susan Milligan, also related to Brisjon is on the left end.  In the center are Brisjon’s two cousins who came to pick her up for dinner and whom she was meeting for the first time.

But that’s not all all, cousin Brisjon also matches Catherine Borges.  Let me tell you, I know who got the tall genes in this family, and I’m not normally considered short.  Brisjon’s genealogical journey is incredibly amazing and she will be sharing it with us in an upcoming book.  Suffice it to say, things are not always what you think they are and Brisjon is living proof.  She also met her biological father for the first time this weekend!  I’m sure Houston and her 2012 visit where she met so many family members is a watershed event in her lifetime!  She is very much a lovely lady and I am so happy to have met her.  Cousins Rule!

ISOGG traditionally has its meeting on Sunday morning before the first session.  Lots of sleepy people because everyone has so much fun at the ISOGG party and stays up way too late.

Alice Fairhurst, who has done a remarkable job with the ISOGG Y SNP tree (Thank you Alice!) knows an avalanche is about to descend on her with the new Geno 2.0 chip.  They are also going to discontinue the haplogroup names, because they pretty much have to, but will maintain an indented tree so you can at least see where you are.  The names are becoming obsolete because everytime there is an insertion upstream, everything downstream gets renamed and it makes us crazy.  It was bad enough before, but going from 860+ branches to  6150+ in one fell swoop and knowing it’s probably just the beginning confirms the logic in abandoning the names.  However, we have to develop or implement some sort of map so you can find your relative location (no pun intended) and understand what it means.

Alice also mentioned that they need people to be responsible for specific haplogroups or subhaplogroups and they have lost people that have not been replaced, so if anyone is willing or knows of anyone….please contact Alice.

Alice also makes wonderful beaded double helix necklaces.

Brian Swann (sorry, no picture) is visiting from England this year and he spoke just a bit about British records.  He said it’s imperative to learn how they work and to use some of the British sites where they have been indexed.  He also reminded us to check GOONS (Guild of One Name Studies) for our surnames and that can help us localize family groups for recruiting.  He said that you may have to do family reconstructions because to get a Brit to test you have to offer them something.  That’s not terribly different from over here.  He also mentioned that today about half of the British people having children don’t marry, so in the next generation, family reconstruction will be much more difficult.  That too isn’t so terribly different than here, although I’m not sure about the percentages.  It’s certainly a trend, as are varying surname practices even within marriage.

Dr. Doron Behar began the official Sunday agenda with a presentation about the mtCommunity and a discussion of his recently published paper “A ‘Copernican’ Reassesement of the Human Mitochondrial DNA Tree from its Root.”  This paper has absolutely revolutionized the mitochondrial DNA community.  I blogged about this when the paper was first released and our home pages were updated.    One point he made is that it is important to remember is that your mutations don’t change.  The only thing that changes between the CRS (Cambridge Reference Sequence) and the RSRS (Reconstructed Sapiens Reference Sequence)  model is what your mutations are being compared to.  Instead of being compared to someone from Europe who live in 1981 (the CRS) we are now comparing to the root of the tree, Mitochondrial Eve (RSRS) as best we can reconstruct what her mitochondrial DNA looked like.

He also said that when people join the mtCommunity, their results are not automatically being added to GenBank at NCBI.  That is a separate authorization check box.

A survey was distributed to question participants as to whether they want results, when they select the GenBank option, to be submitted with their kit number.  Now, they are not, and they are under Bennett’s name, so any researcher with a question asks Bennett who has no “track back” to the person involved.  About 6000 of the 16,000 submissions today at GenBank are from Family Tree DNA customers.  Dr. Behar said that by this time next year, he would expect it to be over half.  Once again, genetic genealogy pioneers are leading the way!

At these conferences, there is always one session that would be considered the keynote.  Normally, it’s Spencer Wells when he is on the agenda, and indeed, his session was wonderful.  But at the 2012 conference, this next session absolutely stole the show.  Less public by far, and much less flashy, but at the core root of all humanity.

You can’t really tell from the title of this session what is coming.  Michael Hammer with Thomas Krahn and Bonnie Schrack, one of our own citizen scientists, presented something called “A Highly Divergent Y Chromosome Lineage.”  Yawn.  But the content was anything but yawn-material.  We literally watched scientific discovery unfold in front of our eyes.

Bonnie Schrack is the haplogroup A project administrator.  Haplogroup A is African and is at the root of the entire haplotree.  One of Bonnie’s participants, an African American man from South Carolina agreed to participate in WTY testing.  In a nutshell, when Thomas and Astrid began scoring his results, they continued and continued and continued, and wound up literally taking all night.  At dawn’s first light, Thomas told Astrid that he thought they had found an entirely new haplogroup that preceded any known today.  But he was too sleep deprived to be sure. Astrid, equally as sleep deprived, replied with “Huh?” in disbelief.  It’s certainly not a statement you expect to hear, even once in your lifetime.  This is a once in the history of mankind event.

Dr. Michael Hammer confirmed that indeed, they had discovered the new root of the human Y tree.  And not by a little either, but by a lot.  For those who want to take a look for yourself, Ysearch ID 6M5JA.  Hammer’s lab did the age projection on this sample, and it pushed the age of hominid men back by about 100,000 years, from 140,000 years ago to 237,000 years ago.  They then reevaluated the aging on all of the tree and have moved the prior date to about 200,000 years ago and the new one to about 338,000 years ago with a 98% confidence level.  This is before the oldest fossils that have been found, and also before the earliest mitochondrial DNA estimate, which previously had been twice as old as the Yline ancestor.

The previous root, A1b has been renamed A0 and the new root, just discovered is now A00.  Any other new roots discovered will simply get another zero appended.

How is it that we’ve never seen this before?  Well, it turns out that this line nearly went extinct.  Cruciani published a paper in 2012 that included some STR values that matched this sample, but fortunately, Michael Hammer’s lab held the actual samples.  A search of academic data bases reveals only a very few close matches, all in western Cameroon near the Gulf of Guinea.  Interestingly, next door, in Nigeria, fossils have been found younger than this with archaic features.  This is going to cause us to have to reevaluate the source of this lineage and with it the lineage of all mankind.  We must now ask the question about whether perhaps we really have stumbled upon a Neanderthal or other archaic lineage that of course “became” human.  Like many scientific discoveries, this answer only begs more questions.  My husband says this is like Russian tea dolls where ever smaller ones are nested in larger ones.

This discovery changes the textbooks, upsets the proverbial apple cart in a good way, and will keep scientists’ thinking caps on for years.  And to think, this was a result of one of our projects, an astute project administrator (Bonnie) and a single project member.  I wonder what the man who tested thinks of all of this. He is making science and all he thought he was doing was testing for genealogy.  You just never know where the next scientific breakthrough will come from.  Congrats to all involved, Bonnie, Thomas, Michael and to Bennett and Max for having this evolution revolution happen right in their lab!

If I felt sorry for Judy following Spencer, I really felt sorry for the breakout sessions following Thomas, Michael and Bonnie’s session.  Thankfully at least we had a break in-between, but most people were wandering around with some degree of stunned disbelief on their faces.  We all found it hard to fathom that we had been among the first to know of this momentous breakthrough.

I had a hard time deciding which session to attend, CeCe’s “Family Finder” session or Elise’s.  I decided to attend Elise’s “Advanced Admin Techniques” because I work with autosomal DNA with my clients and I tend to keep more current there.  Elise’s session was great for newer admins and held tips and hints for us old-timers too.  I realized I really need to just sit down and play with all of the options.

There are some great new features built in that I’ve never noticed.  For example, did you know that you can group people directly from the Y results chart without going to the subgrouping page?  It’s much easier too because it’s one step.  However, the bad news is that you still can’t invite someone who has already tested to join your project.  Hopefully that feature will be added soon.

The next session was “A Tale of Two Families” given by Rory Van Tuyl detailing how he used various techniques to discern whether individuals who did not show up as matches, meaning they were beyond the match threshold, were actually from the same ancient family or not.  Rory is a retired engineer and it shows in his attention to detail and affinity for math.

We always tell people that mutations can and do happen at any time, but Rory proved this.  He ran a monte-carlo simulation and showed that in one case, it was 50 generations between mutations, but in others, there was one mutation for three generations in a row.  Mutations by no means happen at a constant rate.  Of course, this means that our TIP calculator which has no choice but to use means and averages is by definition “not calibrated” for any particular family.

He also mentioned that his simulation shows that by about 150 generations, there are a couple of back mutations taking place.

The final session before the ending Q&A was Elliott speaking about IT, which really translates into new features and functions.  Let’s face it, today everything involves IT.

Again, I was having trouble typing fast enough, so you might want to check the Twitter feed.

They added the SNP maps (admins, please turn them on) and the interactive tour this year.  The tour isn’t used as much as it should be, so everyone, encourage your newbies to do this.

They have also added advanced matching, which I use a lot for clients, but many people didn’t realize it.  So maybe a quick tour through the website options might be in order for most of us.

They are handling 50 times more data now that a year ago.  Just think what next year will bring.  Wow.

They are going to update the landing page again with more color and more visible options for people to do things.  I hope they prompt people through things, like oldest ancestor mapping, for example.  Otherwise, if it isn’t easy, most don’t.

They are upgrading Population Finder and the Gedcom viewer.  They are adding a search feature.  Thank you!!  Older Gedcome will still be there but not searchable.

But the best news is that they are adding phasing (parent child) and an advanced capability to “reconstruct” an ancestor using more distant relatives, then the ability to search using that ancestral profile against Family Finder.  Glory be!  We are finally getting there.  Maybe my dreaming big wasn’t as far away as I thought.

They will also remove the 5 person autosomal download restriction and the “in common with” requirement to see additional information.  All good news.  They are also upgrading the Chromosome browser to add more filtering options.

They are also going to offer a developer “sandbox” area for applications.

The final Q&A session began with Bennett saying that their other priorities preclude upgrading Y search to 111 markers.

They are not planning to drop the entry level tests, 12 or 25 markers or the HVR1. If they do, lots of people will never take that plunge.  I was very glad to hear this.

And by way of trivia, Family Tree DNA has run more than 5 million individual tests.  Wow, not bad for a company that didn’t exist, in an industry that didn’t exist, 12 years ago!

It’s an incredible time to be alive and to be a genetic genealogist!  Thank you Family Tree DNA for making all of this possible.

Native American DNA News

It’s a good DNA day for Native American DNA research.

Yesterday, I was talking to Bennett Greenspan at Family Tree DNA.  He knows of my interest in Native heritage.  Our conversation turned to the new Geno 2.0 chip, now called the GenoChip, and the expected ethnicity results relative to Native heritage.

It turns out that Bennett and Spencer Wells had just been talking about the same thing.  Spencer said that the GenoChip is exceptionally good at picking up Native American ancestry and that it’s one of the key features built into the autosomal SNPs they chose and the resulting admixture analyses.  Spencer says that as long as the admixture is above 2%, we’ll see it.

Two percent equates to between 5 and 6 generations.

I can’t wait to compare Geno 2.0 results of people who previously tested at 23andMe and with Family Tree DNA’s Family Finder, and especially those who showed the Middle Eastern percentage with the Family Finder test.

This information dovetails nicely with a new paper to be published in the American Journal of Human Genetics, the February 10th edition.

In this new paper, Dr. Theodore Schurr has used Y and mitochondrial DNA evidence collected from 500 Siberian people living in remote villages and more than 2500 Native Americans from Canada, the US and Mexico.  The paper confirms the homeland of the Native people in the Americans was originally the Altay Mountains in Siberia (photo above).  This isn’t new news, but it’s nice to have confirmation and it will be interesting to see the details in the paper.

In an article published this week by the National Geographic Society titled “Is this Russian Landscape the Birthplace of Native Americans?”, they mention that there is one marker in a male Y-line that mutated about 18,000 years ago and is still carried by Native men today.

http://news.nationalgeographic.com/news/2012/01/120203-native-americans-siberia-genes-dna-science/

I know that many recently discovered Y-line SNPs were included for haplogroup Q on the new GenoChip.  I’m very hopeful that the DNA of the Siberian people was vetted for new autosomal SNPs and included as well.  It’s likely, as Dr. Schurr, in addition to his work at the University of Pennsylvania is also the North American Director for the Genographic Project.